rs2215263

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0342 (10232/29872,GnomAD)
T==0295 (8598/29118,TOPMED)
T==0367 (1837/5008,1000G)
T==0370 (1427/3854,ALSPAC)
T==0380 (1410/3708,TWINSUK)
chr19:27923668 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
145 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27923668T>A
GRCh38.p7 chr 19NC_000019.10:g.27923668T>C
GRCh37.p13 chr 19NC_000019.9:g.28414576T>A
GRCh37.p13 chr 19NC_000019.9:g.28414576T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.191C=0.809
1000GenomesAmericanSub694T=0.420C=0.580
1000GenomesEast AsianSub1008T=0.561C=0.439
1000GenomesEuropeSub1006T=0.358C=0.642
1000GenomesGlobalStudy-wide5008T=0.367C=0.633
1000GenomesSouth AsianSub978T=0.380C=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.370C=0.630
The Genome Aggregation DatabaseAfricanSub8700T=0.216C=0.784
The Genome Aggregation DatabaseAmericanSub836T=0.440C=0.56,
The Genome Aggregation DatabaseEast AsianSub1608T=0.581C=0.419
The Genome Aggregation DatabaseEuropeSub18426T=0.376C=0.623
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.342C=0.657
The Genome Aggregation DatabaseOtherSub302T=0.380C=0.62,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.295C=0.704
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.380C=0.620
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
rs22152630.000425alcohol consumption (maxi-drinks)24277619

eQTL of rs2215263 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr19:28414576CTC-459F4.6ENSG00000267264.1T>C1.9152e-8120130Cerebellum
Chr19:28414576AC022153.1ENSG00000267623.2T>C2.5001e-321073Cerebellar_Hemisphere

meQTL of rs2215263 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 )
chr193013631330136732E06717927
chr193013675030137438E06718364
chr193015308430154483E06734698
chr193015955530160313E06741169
chr193016214130164772E06743755
chr193016572630165839E06747340
chr193016589530165947E06747509
chr193016595530166048E06747569
chr193016605730166107E06747671
chr193016620030166254E06747814
chr193016626830166318E06747882
chr193016636330166442E06747977
chr193016646230166640E06748076
chr193016665030166878E06748264
chr193016694630167215E06748560
chr193016731030167360E06748924
chr193010133930102168E068-16218
chr193010218130102277E068-16109
chr193013631330136732E06817927
chr193015308430154483E06834698
chr193016214130164772E06843755
chr193016558930165643E06847203
chr193016572630165839E06847340
chr193016589530165947E06847509
chr193016595530166048E06847569
chr193016605730166107E06847671
chr193016620030166254E06847814
chr193016626830166318E06847882
chr193016636330166442E06847977
chr193016646230166640E06848076
chr193016665030166878E06848264
chr193016694630167215E06848560
chr193016731030167360E06848924
chr193011362330113788E069-4598
chr193011379630113857E069-4529
chr193013675030137438E06918364
chr193015308430154483E06934698
chr193015955530160313E06941169
chr193016034230160522E06941956
chr193016214130164772E06943755
chr193016492030165130E06946534
chr193016524330165405E06946857
chr193016558930165643E06947203
chr193016572630165839E06947340
chr193016589530165947E06947509
chr193016595530166048E06947569
chr193016605730166107E06947671
chr193016620030166254E06947814
chr193016626830166318E06947882
chr193016636330166442E06947977
chr193016646230166640E06948076
chr193016665030166878E06948264
chr193016694630167215E06948560
chr193016731030167360E06948924
chr193011458030115129E070-3257
chr193011529830115360E070-3026
chr193011542630115492E070-2894
chr193011556330115647E070-2739
chr193011581130116668E070-1718
chr193009826430098347E071-20039
chr193011347530113599E071-4787
chr193011362330113788E071-4598
chr193011379630113857E071-4529
chr193013631330136732E07117927
chr193013675030137438E07118364
chr193015308430154483E07134698
chr193015459330154709E07136207
chr193015955530160313E07141169
chr193016034230160522E07141956
chr193016055130160669E07142165
chr193016214130164772E07143755
chr193016492030165130E07146534
chr193016524330165405E07146857
chr193016558930165643E07147203
chr193016572630165839E07147340
chr193016589530165947E07147509
chr193016595530166048E07147569
chr193016605730166107E07147671
chr193016620030166254E07147814
chr193016626830166318E07147882
chr193016636330166442E07147977
chr193016646230166640E07148076
chr193016665030166878E07148264
chr193016694630167215E07148560
chr193016731030167360E07148924
chr193010114630101276E072-17110
chr193010133930102168E072-16218
chr193010218130102277E072-16109
chr193011362330113788E072-4598
chr193011379630113857E072-4529
chr193013631330136732E07217927
chr193015308430154483E07234698
chr193015955530160313E07241169
chr193016034230160522E07241956
chr193016214130164772E07243755
chr193016492030165130E07246534
chr193016524330165405E07246857
chr193016558930165643E07247203
chr193016572630165839E07247340
chr193016589530165947E07247509
chr193016595530166048E07247569
chr193016605730166107E07247671
chr193016620030166254E07247814
chr193016626830166318E07247882
chr193016636330166442E07247977
chr193016646230166640E07248076
chr193016665030166878E07248264
chr193016694630167215E07248560
chr193016731030167360E07248924
chr193013631330136732E07317927
chr193013675030137438E07318364
chr193016214130164772E07343755
chr193016558930165643E07347203
chr193016572630165839E07347340
chr193016589530165947E07347509
chr193016595530166048E07347569
chr193016605730166107E07347671
chr193016620030166254E07347814
chr193016626830166318E07347882
chr193016636330166442E07347977
chr193016646230166640E07348076
chr193016665030166878E07348264
chr193016694630167215E07348560
chr193016731030167360E07348924
chr193013631330136732E07417927
chr193013675030137438E07418364
chr193015308430154483E07434698
chr193015955530160313E07441169
chr193016034230160522E07441956
chr193016055130160669E07442165
chr193016214130164772E07443755
chr193016558930165643E07447203
chr193016572630165839E07447340
chr193016589530165947E07447509
chr193016595530166048E07447569
chr193016605730166107E07447671
chr193016620030166254E07447814
chr193016626830166318E07447882
chr193016636330166442E07447977
chr193016646230166640E07448076
chr193016665030166878E07448264
chr193016694630167215E07448560
chr193016731030167360E07448924
chr193011581130116668E081-1718
chr193011556330115647E082-2739










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr193009633530097934E067-20452
chr193015473630159312E06736350
chr193009633530097934E068-20452
chr193015473630159312E06836350
chr193009633530097934E069-20452
chr193015473630159312E06936350
chr193009633530097934E070-20452
chr193009633530097934E071-20452
chr193009633530097934E072-20452
chr193015473630159312E07236350
chr193009633530097934E073-20452
chr193015473630159312E07336350
chr193009633530097934E074-20452
chr193015473630159312E07436350
chr193009633530097934E081-20452
chr193009633530097934E082-20452