rs4648940

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0130 (3903/29952,GnomAD)
C==0141 (4127/29118,TOPMED)
C==0175 (874/5008,1000G)
C==0107 (413/3854,ALSPAC)
C==0118 (439/3708,TWINSUK)
chr1:24148687 (GRCh38.p7) (1p36.11)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.24148687C>T
GRCh37.p13 chr 1NC_000001.10:g.24475177C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.196T=0.804
1000GenomesAmericanSub694C=0.080T=0.920
1000GenomesEast AsianSub1008C=0.202T=0.798
1000GenomesEuropeSub1006C=0.110T=0.890
1000GenomesGlobalStudy-wide5008C=0.175T=0.825
1000GenomesSouth AsianSub978C=0.250T=0.750
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.107T=0.893
The Genome Aggregation DatabaseAfricanSub8720C=0.209T=0.791
The Genome Aggregation DatabaseAmericanSub838C=0.070T=0.930
The Genome Aggregation DatabaseEast AsianSub1612C=0.148T=0.852
The Genome Aggregation DatabaseEuropeSub18480C=0.095T=0.904
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.130T=0.869
The Genome Aggregation DatabaseOtherSub302C=0.080T=0.920
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.141T=0.858
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.118T=0.882
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
rs46489403.5E-05alcohol dependence24277619

eQTL of rs4648940 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:24475177IL22RA1ENSG00000142677.3C>T2.1000e-275566Cerebellum

meQTL of rs4648940 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 )
chr12443835524438536E067-36641
chr12444662224447258E068-27919
chr12444731124447491E068-27686
chr12452177624521999E06846599
chr12443854924439447E069-35730
chr12444662224447258E071-27919
chr12444731124447491E071-27686
chr12443854924439447E073-35730
chr12443835524438536E074-36641
chr12443835524438536E081-36641
chr12443854924439447E081-35730







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12451283024514629E06737653
chr12451283024514629E06837653
chr12451283024514629E06937653
chr12451283024514629E07137653
chr12451283024514629E07237653
chr12451283024514629E07337653
chr12451283024514629E07437653
chr12451283024514629E08237653