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19:1095318:A:C (rs538071326)

ACGTCTCCTCCTCGTCGTCCATGGCA/C/GGCCTCCGCCGCCGCCGCCGCTCGCA

single-nucleotide variant

This variant is multi-allelic

ADSP Variant WES

WES Filter Status: PASS: pass in both GATK and ATLAS

More information

NOTE: Corresponding records for this variant may not exist in the ExAC or GTex resources.

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.

This variant falls within the gene: POLR2E.

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Population Frequencies

Alternative/minor allele frequencies reported by various studies or from standard resources (1000 Genomes, dbSNP, ExAC) for specific populations.

When the population is identified as Global, it typically refers to a meta-value calculated across all populations in the study or resource; mouse over for more information.

Frequencies are reported as documented in the orignial data source or calculated as a ratio of observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present.

Data sources are listed in the documentation.

The 1000Genomes Phase 1 frequencies were obtained from dbSNP.

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Population Ethnicity Resource Allele Frequency
GAF Global 1000 Genomes Phase 1 C 0
Adj Global ExAC C 1.6e-04
FIN Finnish ExAC C 3.2e-04
NFE Non-Finnish European ExAC C 2.6e-04

Variant-based Trait Associations (GWAS)

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The following variants have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS: Alzheimer's Disease

NIAGADS AD GWAS summary statistics datasets in which this variant has a genome-wide significance 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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To view functional genomics annotations on the genome browser, first select tracks in the table below and then use the provided button to load the tracks on the browser.

Allele p-Value Track Accession
N/A 8.6e-17
ADSP Single-Variant Risk Association: European (Model 1)
NG00065
N/A 8.6e-17
ADSP Single-Variant Risk Association: meta analysis (Model 1)
NG00065
N/A 8.6e-17
ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1)
NG00065
N/A 1.2e-14
ADSP Single-Variant Risk Association: meta analysis (Model 2)
NG00065
N/A 1.2e-14
ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2)
NG00065
N/A 1.2e-14
ADSP Single-Variant Risk Association: European (Model 2)
NG00065

NHGRI GWAS Catalog: Alzheimer's Disease

Alzheimer's Disease-related annotations for the dbSNP refSNP associated with this variant in the NHGRI GWAS Catalog.

The following variants have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS: Related neuropathologies and AD biomarkers

NIAGADS AD GWAS summary statistics datasets in which this variant has a genome-wide significance 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: Other Traits (incl. related neuropathologies and AD biomarkers)

Trait associations for the dbSNP refSNP associated with this variant in the NHGRI GWAS Catalog.

Predicted Variant Effect

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Combined Annotation Dependent Depletion (CADD) PHRED-normalized scores.

The higher the score, the more deleterious the substitution is predicted to be.

PHRED-normalized scores indicate ranked deleteriousness across ~8.6 billion SNVs on the human genome (GRCh37/hg19).

A normalized-score ≥10 indicates that the variant is predicted to be among the 10% most deleterious substitutions on the human genome.

A score ≥20 indicates that the variant is among the top 1% most deleterious.

The ranked deleteriousness of this variant (CADD PHRED-score) is: 11.32

This variant is colocated with 7 transcripts in 1 gene, with the following predicted effects:

All Predictd Effects (incl. intergenic)

Most Severe Predicted Effects

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Group By: Analysis Consequence Impact Gene

Analysis Gene Ranked Over Consequence Impact
SnpEff POLR2E all transcripts 5 prime UTR variant MODIFIER

Functional Genomics

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Transcription Factor Occupancy (CATO)
contextual analysis of transcription factor occupancy (CATO) scores precomputed for dbSNP 142 in humans (hg19)

Transcription Factor Binding Site Overlap (ENCODE ChIP-SEQ)

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To view functional genomics annotations on the genome browser, first select tracks in the table below and then use the provided button to load the tracks on the browser.

Track Chromosome Peak Start Peak End Characteristics
POLR2A TFBS ChIP-seq on human SK-N-SH
chr19 1095198 1095436
REST TFBS ChIP-seq on human U87
chr19 1095302 1095625
POLR2A TFBS ChIP-seq on human U87
chr19 1095169 1095452
FOXP2 TFBS ChIP-seq on human PFSK-1
chr19 1095310 1095613
TAF1 TFBS ChIP-seq on human SK-N-SH
chr19 1095199 1095508
POLR2A TFBS ChIP-seq on human Gliobla
chr19 1095315 1095411
YY1 TFBS ChIP-seq on human SK-N-SH_RA
chr19 1095156 1095505

DNase Hotspots Overlap (ENCODE DNase-SEQ)

Expressed Enhancer Overlap (FANTOM5)