rs11696193

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0263 (7810/29700,GnomAD)
G=0283 (8253/29118,TOPMED)
G=0338 (1691/5008,1000G)
G=0255 (983/3854,ALSPAC)
G=0277 (1028/3708,TWINSUK)
chr20:43896850 (GRCh38.p7) (20q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
75 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.43896850A>G
GRCh37.p13 chr 20NC_000020.10:g.42525490A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.698G=0.302
1000GenomesAmericanSub694A=0.780G=0.220
1000GenomesEast AsianSub1008A=0.467G=0.533
1000GenomesEuropeSub1006A=0.738G=0.262
1000GenomesGlobalStudy-wide5008A=0.662G=0.338
1000GenomesSouth AsianSub978A=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.745G=0.255
The Genome Aggregation DatabaseAfricanSub8668A=0.730G=0.270
The Genome Aggregation DatabaseAmericanSub832A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1618A=0.417G=0.583
The Genome Aggregation DatabaseEuropeSub18282A=0.767G=0.232
The Genome Aggregation DatabaseGlobalStudy-wide29700A=0.737G=0.263
The Genome Aggregation DatabaseOtherSub300A=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.716G=0.283
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.723G=0.277
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
rs116961930.000062alcoholismpha002892
rs116961930.000062alcohol dependence(early age of onset)20201924
rs116961930.00044alcohol dependence20201924

eQTL of rs11696193 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 rs11696193 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 )
chr204249218242492272E067-33218
chr204249240742492853E067-32637
chr204255491242555183E06729422
chr204255527542555700E06729785
chr204249240742492853E068-32637
chr204249285842493079E068-32411
chr204253222342532273E0686733
chr204253294242533199E0687452
chr204253323042533363E0687740
chr204253345142533649E0687961
chr204253371742533792E0688227
chr204255491242555183E06829422
chr204256762242568931E06842132
chr204249218242492272E069-33218
chr204249240742492853E069-32637
chr204249285842493079E069-32411
chr204249311142493192E069-32298
chr204253294242533199E0697452
chr204256500042565358E06939510
chr204256547042565729E06939980
chr204252271842522894E070-2596
chr204252299042523505E070-1985
chr204252352742523577E070-1913
chr204252369842523824E070-1666
chr204255379642554292E07028306
chr204255430542554907E07028815
chr204255491242555183E07029422
chr204255527542555700E07029785
chr204257417042574247E07048680
chr204257443642574880E07048946
chr204257518942575330E07049699
chr204249240742492853E071-32637
chr204249285842493079E071-32411
chr204249311142493192E071-32298
chr204253294242533199E0717452
chr204253323042533363E0717740
chr204253345142533649E0717961
chr204256500042565358E07139510
chr204256547042565729E07139980
chr204256762242568931E07142132
chr204256920442569346E07143714
chr204256939342569718E07143903
chr204256976242569958E07144272
chr204249218242492272E072-33218
chr204249240742492853E072-32637
chr204249285842493079E072-32411
chr204249311142493192E072-32298
chr204253323042533363E0727740
chr204253345142533649E0727961
chr204253371742533792E0728227
chr204256547042565729E07239980
chr204256762242568931E07242132
chr204255527542555700E07329785
chr204256500042565358E07339510
chr204256547042565729E07339980
chr204249240742492853E074-32637
chr204249285842493079E074-32411
chr204249311142493192E074-32298
chr204253294242533199E0747452
chr204255430542554907E07428815
chr204255491242555183E07429422
chr204256500042565358E07439510
chr204256547042565729E07439980
chr204256641942566918E07440929
chr204256695342567373E07441463
chr204256752142567594E07442031
chr204252800942528630E0812519
chr204252864742529047E0813157
chr204252908442529205E0813594
chr204252927042529444E0813780
chr204255430542554907E08128815
chr204255527542555700E08129785
chr204257417042574247E08148680
chr204257443642574880E08148946
chr204257518942575330E08149699









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204254367742545726E06718187
chr204254367742545726E06818187
chr204254367742545726E06918187
chr204254275742542820E07017267
chr204254295542543057E07017465
chr204254306742543601E07017577
chr204254295542543057E07117465
chr204254306742543601E07117577
chr204254367742545726E07218187
chr204254367742545726E07318187
chr204254275742542820E08217267
chr204254295542543057E08217465
chr204254306742543601E08217577