rs278020

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0492 (14687/29828,GnomAD)
C==0477 (13894/29118,TOPMED)
C==0493 (2470/5008,1000G)
T=0468 (1804/3854,ALSPAC)
T=0456 (1689/3708,TWINSUK)
chr1:6704583 (GRCh38.p7) (1p36.31)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.6704583C>T
GRCh37.p13 chr 1NC_000001.10:g.6764643C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.427T=0.573
1000GenomesAmericanSub694C=0.630T=0.370
1000GenomesEast AsianSub1008C=0.402T=0.598
1000GenomesEuropeSub1006C=0.518T=0.482
1000GenomesGlobalStudy-wide5008C=0.493T=0.507
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.532T=0.468
The Genome Aggregation DatabaseAfricanSub8684C=0.431T=0.569
The Genome Aggregation DatabaseAmericanSub834C=0.650T=0.350
The Genome Aggregation DatabaseEast AsianSub1616C=0.417T=0.583
The Genome Aggregation DatabaseEuropeSub18396C=0.520T=0.479
The Genome Aggregation DatabaseGlobalStudy-wide29828C=0.492T=0.507
The Genome Aggregation DatabaseOtherSub298C=0.530T=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.477T=0.522
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.544T=0.456
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs2780200.000962alcohol dependence24277619

eQTL of rs278020 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs278020 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr167601176760252E068-4391
chr167949536795157E06830310
chr167952106795440E06830567
chr167956236795694E06830980
chr167958136795949E06831170
chr167601176760252E069-4391
chr167949536795157E06930310
chr167952106795440E06930567
chr167956236795694E06930980
chr167958136795949E06931170
chr167601176760252E071-4391
chr167949536795157E07130310
chr167952106795440E07130567
chr167956236795694E07130980
chr167958136795949E07131170
chr168031786804238E07138535
chr167601176760252E072-4391
chr167952106795440E07230567
chr167956236795694E07230980
chr167958136795949E07231170
chr167952106795440E07430567
chr167516776751816E081-12827
chr167516776751816E082-12827







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr167611906761545E067-3098
chr167615476762292E067-2351
chr167611906761545E068-3098
chr167615476762292E068-2351
chr167611906761545E069-3098
chr167615476762292E069-2351
chr167615476762292E070-2351
chr167611906761545E071-3098
chr167615476762292E071-2351
chr167611906761545E072-3098
chr167615476762292E072-2351
chr167611906761545E073-3098
chr167615476762292E073-2351
chr167611906761545E074-3098
chr167615476762292E074-2351
chr167611906761545E081-3098
chr167615476762292E081-2351
chr167611906761545E082-3098
chr167615476762292E082-2351