rs1191694

Homo sapiens
C>T
LOC101927400 : Intron Variant
LOC105373567 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0415 (12404/29858,GnomAD)
C==0449 (13093/29116,TOPMED)
C==0492 (2465/5008,1000G)
C==0309 (1189/3854,ALSPAC)
C==0304 (1129/3708,TWINSUK)
chr2:113327259 (GRCh38.p7) (2q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.113327259C>T
GRCh37.p13 chr 2NC_000002.11:g.114084836C>T

Gene: LOC101927400, uncharacterized LOC101927400(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101927400 transcript variant X1XR_001739647.1:n.N/AIntron Variant
LOC101927400 transcript variant X2XR_001739648.1:n.N/AIntron Variant
LOC101927400 transcript variant X5XR_001739649.1:n.N/AIntron Variant
LOC101927400 transcript variant X3XR_923213.2:n.N/AIntron Variant
LOC101927400 transcript variant X4XR_923214.2:n.N/AIntron Variant
LOC101927400 transcript variant X6XR_001739650.1:n.N/AGenic Upstream Transcript Variant

Gene: LOC105373567, uncharacterized LOC105373567(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LOC105373567 transcript variant X1XR_923223.2:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.679T=0.321
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.486T=0.514
1000GenomesEuropeSub1006C=0.337T=0.663
1000GenomesGlobalStudy-wide5008C=0.492T=0.508
1000GenomesSouth AsianSub978C=0.420T=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.309T=0.691
The Genome Aggregation DatabaseAfricanSub8676C=0.643T=0.357
The Genome Aggregation DatabaseAmericanSub836C=0.460T=0.540
The Genome Aggregation DatabaseEast AsianSub1608C=0.494T=0.506
The Genome Aggregation DatabaseEuropeSub18436C=0.302T=0.697
The Genome Aggregation DatabaseGlobalStudy-wide29858C=0.415T=0.584
The Genome Aggregation DatabaseOtherSub302C=0.230T=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.449T=0.550
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.304T=0.696
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs11916940.00096alcohol dependence20201924

eQTL of rs1191694 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 rs1191694 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 )
chr2114041263114041900E068-42936
chr2114041953114042393E068-42443
chr2114081673114081956E068-2880
chr2114083365114083456E068-1380
chr2114041263114041900E069-42936
chr2114041953114042393E069-42443
chr2114039530114039918E070-44918
chr2114039980114040422E070-44414
chr2114063403114063591E070-21245
chr2114114841114114930E07030005
chr2114039530114039918E071-44918
chr2114039980114040422E071-44414
chr2114041263114041900E071-42936
chr2114041953114042393E071-42443
chr2114062696114062776E071-22060
chr2114081673114081956E071-2880
chr2114083365114083456E071-1380
chr2114038611114038661E072-46175
chr2114041263114041900E072-42936
chr2114041953114042393E072-42443
chr2114083365114083456E072-1380
chr2114041263114041900E073-42936
chr2114041953114042393E073-42443
chr2114042596114042752E073-42084
chr2114083365114083456E073-1380
chr2114041263114041900E074-42936
chr2114041953114042393E074-42443
chr2114083365114083456E074-1380
chr2114080908114080983E081-3853
chr2114081148114081203E081-3633
chr2114081369114081582E081-3254
chr2114081673114081956E081-2880
chr2114083365114083456E081-1380
chr2114048685114049154E082-35682
chr2114049164114049231E082-35605
chr2114062696114062776E082-22060









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2114082012114082877E067-1959
chr2114082012114082877E068-1959
chr2114082012114082877E069-1959
chr2114082012114082877E070-1959
chr2114082012114082877E071-1959
chr2114082012114082877E072-1959
chr2114082012114082877E073-1959
chr2114082012114082877E082-1959