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CR1 - ENSG00000203710

complement C3b/C4b receptor 1 (Knops blood group)

Also known as: CD35, KN

Location: chr1:207,669,492-207,813,992

Gene Type: protein coding

More information
NCBI Gene
1378
HUGO
HGNC:2334
Ensembl
ENSG00000203710
VEGA
OTTHUMG00000036311
OMIM
120620
UniProtKB
P17927

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Caribbean Hispanic 20 0.094 N/A 1 0.146 115.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 113 0.115 N/A 0 0.119 2494.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 20 0.128 N/A 1 0.146 115.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 20 0.133 N/A 1 0.146 115.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 121 0.175 N/A 0 0.133 2886.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 113 0.178 N/A 0 0.119 2494.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 9 0.181 N/A 0 8.6e-04 18.0 PCs and sequencing center LOF N/A
NG00065 European 9 0.181 N/A 0 8.6e-04 18.1 PCs and sequencing center VEP HIGH N/A
NG00065 European 113 0.232 N/A 0 0.119 2494.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 121 0.353 N/A 0 0.133 2886.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 121 0.441 N/A 0 0.133 2886.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 9 0.457 N/A 0 8.6e-04 18.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF N/A
NG00065 European 9 0.457 N/A 0 8.6e-04 18.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH N/A
NG00065 European 9 0.490 N/A 0 8.6e-04 18.1 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH N/A
NG00065 European 9 0.490 N/A 0 8.6e-04 18.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the CR1 gene.

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The CR1 gene contains 6,916 variants records (corresponding to 6,591 unique genomic positions).

The following variants, contained within ±100kb of CR1, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of CR1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

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Login in to select variants and add them to your basket.

Relative Position Variant ADSP? Allele p-Value Track Accession
in gene N/A 9.0e-81 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
in gene N/A 9.0e-81 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
in gene N/A 9.0e-81 ADSP Single-Variant Risk Association: European (Model 1) NG00065
in gene N/A 1.1e-63 ADSP Single-Variant Risk Association: European (Model 2) NG00065
in gene N/A 1.1e-63 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065
in gene N/A 1.1e-63 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
in gene A 5.7e-24 IGAP 2013: Stages 1 and 2 NG00036
in gene G 3.0e-23 IGAP 2013: Stages 1 and 2 NG00036
in gene A 4.7e-23 IGAP 2013: Stages 1 and 2 NG00036
in gene A 6.1e-23 IGAP 2013: Stages 1 and 2 NG00036
in gene A 6.9e-23 IGAP 2013: Stages 1 and 2 NG00036
in gene A 1.1e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene T 1.3e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene A 2.8e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene T 3.1e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene A 3.4e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene A 5.0e-22 IGAP 2013: Stages 1 and 2 NG00036
in gene C 1.0e-21 IGAP 2013: Stages 1 and 2 NG00036
in gene A 8.3e-20 IGAP 2013: Stages 1 and 2 NG00036
in gene A 8.3e-20 IGAP 2013: Stages 1 and 2 NG00036
in gene A 3.7e-15 IGAP 2013: Stage 1 NG00036
in gene T 3.9e-15 IGAP 2013: Stage 1 NG00036
in gene T 4.1e-15 IGAP 2013: Stage 1 NG00036
in gene T 7.6e-15 IGAP 2013: Stage 1 NG00036
in gene A 7.7e-15 IGAP 2013: Stage 1 NG00036
in gene A 1.2e-14 IGAP 2013: Stage 1 NG00036
in gene A 1.9e-14 IGAP 2013: Stage 1 NG00036
in gene T 2.3e-14 IGAP 2013: Stage 1 NG00036
in gene G 2.6e-14 IGAP 2013: Stage 1 NG00036
in gene A 2.6e-14 IGAP 2013: Stage 1 NG00036
in gene C 2.6e-14 IGAP 2013: Stage 1 NG00036
in gene C 2.6e-14 IGAP 2013: Stage 1 NG00036
in gene T 2.7e-14 IGAP 2013: Stage 1 NG00036
in gene C 2.7e-14 IGAP 2013: Stage 1 NG00036
in gene T 2.8e-14 IGAP 2013: Stage 1 NG00036
in gene A 3.5e-14 IGAP 2013: Stage 1 NG00036
in gene A 3.5e-14 IGAP 2013: Stage 1 NG00036
in gene A 4.7e-14 IGAP 2013: Stage 1 NG00036
in gene A 4.9e-14 IGAP 2013: Stage 1 NG00036
in gene A 5.4e-14 IGAP 2013: Stage 1 NG00036
in gene A 7.3e-14 IGAP 2013: Stage 1 NG00036
in gene A 2.2e-13 IGAP 2013: Stage 1 NG00036
in gene A 6.8e-12 IGAP 2013: Stage 1 NG00036
in gene A 6.8e-12 IGAP 2013: Stage 1 NG00036
in gene T 8.1e-12 Transethnic LOAD: All Samples NG00056
in gene T 9.8e-12 Transethnic LOAD: All Samples NG00056
in gene A 1.0e-11 Transethnic LOAD: All Samples NG00056
in gene A 1.1e-11 Transethnic LOAD: All Samples NG00056
in gene A 3.1e-11 Transethnic LOAD: All Samples NG00056
upstream C 1.6e-10 IGAP 2013: Stages 1 and 2 NG00036
in gene T 2.5e-10 IGAP (2013): ADGC Subset NG00053
in gene T 2.8e-10 IGAP (2013): ADGC Subset NG00053
in gene T 3.0e-10 IGAP (2013): ADGC Subset NG00053
in gene A 3.4e-10 ADGC 2011: Stages 1 and 2 NG00027
downstream C 3.4e-10 IGAP 2013: Stage 1 NG00036
in gene T 4.5e-10 IGAP (2013): ADGC Subset NG00053
in gene A 4.6e-10 ADGC 2011: Stages 1 and 2 NG00027
in gene A 4.8e-10 ADGC 2011: Stages 1 and 2 NG00027
in gene A 4.9e-10 IGAP (2013): ADGC Subset NG00053
in gene A 5.4e-10 IGAP (2013): ADGC Subset NG00053
in gene A 6.2e-10 IGAP (2013): ADGC Subset NG00053
in gene A 1.1e-9 IGAP (2013): ADGC Subset NG00053
in gene A 1.5e-9 ADGC 2011: Stages 1 and 2 NG00027
in gene T 1.6e-9 ADGC 2011: Stages 1 and 2 NG00027
in gene A 1.8e-9 ADGC 2011: Stages 1 and 2 NG00027
in gene A 1.9e-9 IGAP (2013): ADGC Subset NG00053
in gene A 2.0e-9 Transethnic LOAD: All Samples NG00056
in gene A 2.2e-9 IGAP (2013): ADGC Subset NG00053
in gene C 2.6e-9 IGAP (2013): ADGC Subset NG00053
in gene T 2.6e-9 IGAP (2013): ADGC Subset NG00053
in gene T 2.6e-9 IGAP (2013): ADGC Subset NG00053
in gene T 2.6e-9 IGAP (2013): ADGC Subset NG00053
in gene T 2.8e-9 IGAP (2013): ADGC Subset NG00053
in gene A 2.8e-9 Transethnic LOAD: All Samples NG00056
in gene A 3.0e-9 Transethnic LOAD: All Samples NG00056
in gene A 3.1e-9 ADGC 2011: Stages 1 and 2 NG00027
in gene A 3.2e-9 IGAP (2013): ADGC Subset NG00053
in gene A 3.3e-9 Transethnic LOAD: All Samples NG00056
in gene A 4.0e-9 IGAP (2013): ADGC Subset NG00053
in gene A 4.5e-9 IGAP (2013): ADGC Subset NG00053
in gene A 4.8e-9 IGAP (2013): ADGC Subset NG00053
in gene A 5.7e-9 IGAP (2013): ADGC Subset NG00053
in gene A 6.3e-9 Transethnic LOAD: All Samples NG00056
in gene T 7.4e-9 Transethnic LOAD: All Samples NG00056
in gene A 7.9e-9 IGAP (2013): ADGC Subset NG00053
in gene T 1.0e-8 Transethnic LOAD: All Samples NG00056
in gene A 1.1e-8 Transethnic LOAD: All Samples NG00056
in gene T 1.3e-8 Transethnic LOAD: All Samples NG00056
in gene A 1.4e-8 ADGC 2011: Stage 1 NG00027
in gene A 1.5e-8 ADGC 2011: Stage 1 NG00027
in gene A 1.9e-8 ADGC 2011: Stage 1 NG00027
in gene A 2.1e-8 Transethnic LOAD: All Samples NG00056
in gene A 2.3e-8 IGAP (2013): ADGC Subset NG00053
in gene A 2.7e-8 Transethnic LOAD: All Samples NG00056
in gene A 2.7e-8 Transethnic LOAD: All Samples NG00056
in gene C 2.8e-8 Transethnic LOAD: All Samples NG00056
in gene A 2.9e-8 Transethnic LOAD: All Samples NG00056
in gene T 3.1e-8 Transethnic LOAD: All Samples NG00056
in gene A 3.3e-8 ADGC 2011: Adjusted Stages 1 and 2 NG00027
in gene A 4.2e-8 Transethnic LOAD: All Samples NG00056
in gene A 4.3e-8 ADGC 2011: Stage 1 NG00027
in gene T 4.3e-8 ADGC 2011: Stage 1 NG00027
in gene A 4.4e-8 Transethnic LOAD: All Samples NG00056
in gene A 4.7e-8 ADGC 2011: Stage 1 NG00027
in gene A 5.0e-8 ADGC 2011: Adjusted Stages 1 and 2 NG00027

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of CR1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of CR1, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of CR1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of CR1 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the CR1 gene (chr1:207669492-207813992)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0006958 complement activation, classical pathway IEA
BP GO:0002430 complement receptor mediated signaling pathway IEA
BP GO:0002376 immune system process IEA
BP GO:0045087 innate immune response IEA
BP GO:0045957 negative regulation of complement activation, alternative pathway IDA
BP GO:0045959 negative regulation of complement activation, classical pathway IDA
BP GO:1900004 negative regulation of serine-type endopeptidase activity IDA
BP GO:0043312 neutrophil degranulation TAS
BP GO:1900005 positive regulation of serine-type endopeptidase activity IDA
BP GO:0030449 regulation of complement activation TAS
BP GO:0046718 viral entry into host cell IEA
BP GO:0016032 viral process IEA
CC GO:0009986 cell surface IDA
CC GO:0070062 extracellular exosome IDA
CC GO:0101003 ficolin-1-rich granule membrane TAS
CC GO:0016021 integral component of membrane IEA
CC GO:0005887 integral component of plasma membrane IDA
CC GO:0016020 membrane IEA
CC GO:0005886 plasma membrane TAS
CC GO:0030667 secretory granule membrane TAS
MF GO:0001851 complement component C3b binding IDA
MF GO:0004877 complement component C3b receptor activity IDA
MF GO:0001855 complement component C4b binding IDA
MF GO:0001861 complement component C4b receptor activity IDA
MF GO:0001618 virus receptor activity IEA

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Complement and coagulation cascades hsa04610
Hematopoietic cell lineage hsa04640
Legionellosis hsa05134
Leishmaniasis hsa05140
Malaria hsa05144
Tuberculosis hsa05152