rs7287569

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
C==0423 (12338/29114,TOPMED)
C==0409 (11619/28376,GnomAD)
C==0366 (1833/5008,1000G)
C==0402 (1550/3854,ALSPAC)
C==0401 (1487/3708,TWINSUK)
chr22:42757140 (GRCh38.p7) (22q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.42757140C>A
GRCh37.p13 chr 22NC_000022.10:g.43153146C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.464A=0.536
1000GenomesAmericanSub694C=0.400A=0.600
1000GenomesEast AsianSub1008C=0.151A=0.849
1000GenomesEuropeSub1006C=0.404A=0.596
1000GenomesGlobalStudy-wide5008C=0.366A=0.634
1000GenomesSouth AsianSub978C=0.390A=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.402A=0.598
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.423A=0.576
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.401A=0.599
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
rs72875690.000768alcohol dependence24277619

eQTL of rs7287569 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 rs7287569 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 )
chr224319929143199863E06746145
chr224311773443117834E068-35312
chr224318764543188070E06834499
chr224319929143199863E06846145
chr224320110843202098E06847962
chr224320212243202289E06848976
chr224317608643176582E06922940
chr224318764543188070E06934499
chr224318808143188154E06934935
chr224318820243188291E06935056
chr224318829243188457E06935146
chr224318846043188516E06935314
chr224318858443188651E06935438
chr224318875343188874E06935607
chr224319929143199863E06946145
chr224320110843202098E06947962
chr224320212243202289E06948976
chr224320241443202524E06949268
chr224320255743202610E06949411
chr224320110843202098E07047962
chr224320212243202289E07048976
chr224318764543188070E07134499
chr224318808143188154E07134935
chr224318820243188291E07135056
chr224318829243188457E07135146
chr224318846043188516E07135314
chr224318858443188651E07135438
chr224320110843202098E07147962
chr224320212243202289E07148976
chr224320241443202524E07149268
chr224320255743202610E07149411
chr224318764543188070E07234499
chr224318808143188154E07234935
chr224318820243188291E07235056
chr224318829243188457E07235146
chr224318846043188516E07235314
chr224318858443188651E07235438
chr224318875343188874E07235607
chr224319929143199863E07246145
chr224320110843202098E07247962
chr224320212243202289E07248976
chr224320241443202524E07249268
chr224320255743202610E07249411
chr224320267343202811E07249527
chr224317608643176582E07322940
chr224318674643187298E07333600
chr224318764543188070E07334499
chr224318808143188154E07334935
chr224319908443199134E07345938
chr224319929143199863E07346145
chr224320065943200733E07347513
chr224320077043201096E07347624
chr224320110843202098E07347962
chr224320212243202289E07348976
chr224319929143199863E07446145
chr224320110843202098E07447962
chr224320212243202289E07448976
chr224320241443202524E07449268
chr224320255743202610E07449411








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr224311501743117629E068-35517
chr224311501743117629E069-35517
chr224311501743117629E071-35517
chr224311501743117629E072-35517
chr224311501743117629E073-35517
chr224311501743117629E074-35517