rs1191695

Homo sapiens
T>C
LOC101927400 : Intron Variant
LOC105373567 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0393 (11764/29900,GnomAD)
T==0415 (12091/29116,TOPMED)
T==0472 (2363/5008,1000G)
T==0308 (1186/3854,ALSPAC)
T==0304 (1128/3708,TWINSUK)
chr2:113325786 (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.113325786T>C
GRCh37.p13 chr 2NC_000002.11:g.114083363T>C

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
1000GenomesAfricanSub1322T=0.610C=0.390
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.484C=0.516
1000GenomesEuropeSub1006T=0.337C=0.663
1000GenomesGlobalStudy-wide5008T=0.472C=0.528
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.308C=0.692
The Genome Aggregation DatabaseAfricanSub8688T=0.570C=0.430
The Genome Aggregation DatabaseAmericanSub834T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1610T=0.498C=0.502
The Genome Aggregation DatabaseEuropeSub18466T=0.301C=0.698
The Genome Aggregation DatabaseGlobalStudy-wide29900T=0.393C=0.606
The Genome Aggregation DatabaseOtherSub302T=0.230C=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.415C=0.584
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.304C=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
rs11916950.00072alcohol dependence20201924

eQTL of rs1191695 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 rs1191695 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 )
chr2114041263114041900E068-41463
chr2114041953114042393E068-40970
chr2114081673114081956E068-1407
chr2114083365114083456E0682
chr2114041263114041900E069-41463
chr2114041953114042393E069-40970
chr2114039530114039918E070-43445
chr2114039980114040422E070-42941
chr2114063403114063591E070-19772
chr2114114841114114930E07031478
chr2114039530114039918E071-43445
chr2114039980114040422E071-42941
chr2114041263114041900E071-41463
chr2114041953114042393E071-40970
chr2114062696114062776E071-20587
chr2114081673114081956E071-1407
chr2114083365114083456E0712
chr2114038611114038661E072-44702
chr2114041263114041900E072-41463
chr2114041953114042393E072-40970
chr2114083365114083456E0722
chr2114041263114041900E073-41463
chr2114041953114042393E073-40970
chr2114042596114042752E073-40611
chr2114083365114083456E0732
chr2114041263114041900E074-41463
chr2114041953114042393E074-40970
chr2114083365114083456E0742
chr2114080908114080983E081-2380
chr2114081148114081203E081-2160
chr2114081369114081582E081-1781
chr2114081673114081956E081-1407
chr2114083365114083456E0812
chr2114048685114049154E082-34209
chr2114049164114049231E082-34132
chr2114062696114062776E082-20587









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2114082012114082877E067-486
chr2114082012114082877E068-486
chr2114082012114082877E069-486
chr2114082012114082877E070-486
chr2114082012114082877E071-486
chr2114082012114082877E072-486
chr2114082012114082877E073-486
chr2114082012114082877E082-486