rs9694511

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0222 (6670/29932,GnomAD)
T==0209 (6093/29118,TOPMED)
T==0299 (1495/5008,1000G)
T==0198 (762/3854,ALSPAC)
T==0196 (726/3708,TWINSUK)
chr8:57751729 (GRCh38.p7) (8q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.57751729T>C
GRCh37.p13 chr 8NC_000008.10:g.58664288T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.238C=0.762
1000GenomesAmericanSub694T=0.210C=0.790
1000GenomesEast AsianSub1008T=0.474C=0.526
1000GenomesEuropeSub1006T=0.184C=0.816
1000GenomesGlobalStudy-wide5008T=0.299C=0.701
1000GenomesSouth AsianSub978T=0.380C=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.198C=0.802
The Genome Aggregation DatabaseAfricanSub8714T=0.238C=0.762
The Genome Aggregation DatabaseAmericanSub836T=0.250C=0.750
The Genome Aggregation DatabaseEast AsianSub1608T=0.518C=0.482
The Genome Aggregation DatabaseEuropeSub18474T=0.190C=0.809
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.222C=0.777
The Genome Aggregation DatabaseOtherSub300T=0.130C=0.870
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.209C=0.790
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.196C=0.804
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
rs96945110.000792alcohol dependence24277619

eQTL of rs9694511 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 rs9694511 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 )
chr85866151758661588E067-2700
chr85866151758661588E068-2700
chr85866164358661853E068-2435
chr85861790458617957E069-46331
chr85861799258618103E069-46185
chr85861815758618709E069-45579
chr85866151758661588E069-2700
chr85866164358661853E069-2435
chr85861440258616297E070-47991
chr85861440258616297E071-47991
chr85861637358616423E071-47865
chr85861790458617957E071-46331
chr85861799258618103E071-46185
chr85861815758618709E071-45579
chr85871372858713805E07149440
chr85871412458714180E07149836
chr85866151758661588E073-2700
chr85866164358661853E073-2435
chr85871412458714180E07349836
chr85861440258616297E074-47991
chr85866164358661853E074-2435
chr85861440258616297E081-47991
chr85861760358617770E081-46518
chr85861790458617957E081-46331
chr85861799258618103E081-46185
chr85861815758618709E081-45579
chr85861879958619021E081-45267
chr85862364158623748E081-40540
chr85862382758624008E081-40280
chr85862406458624168E081-40120
chr85863465158635215E081-29073
chr85866151758661588E081-2700
chr85866164358661853E081-2435
chr85866347258664136E081-152
chr85870720258707406E08142914
chr85870748358707651E08143195
chr85870785958708431E08143571
chr85861440258616297E082-47991
chr85861790458617957E082-46331
chr85861799258618103E082-46185
chr85861815758618709E082-45579
chr85861879958619021E082-45267
chr85862406458624168E082-40120
chr85862470258624762E082-39526
chr85866151758661588E082-2700
chr85866164358661853E082-2435









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr85866041458661442E067-2846
chr85866041458661442E068-2846
chr85866041458661442E069-2846
chr85865785358658385E071-5903
chr85866041458661442E071-2846
chr85866041458661442E072-2846
chr85866041458661442E073-2846
chr85866041458661442E074-2846