rs1611371

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0265 (7936/29894,GnomAD)
C==0255 (7451/29118,TOPMED)
C==0235 (1177/5008,1000G)
C==0224 (863/3854,ALSPAC)
C==0215 (796/3708,TWINSUK)
chr6:29712244 (GRCh38.p7) (6p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
47 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.29712244C>T
GRCh37.p13 chr 6NC_000006.11:g.29680021C>T
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.1198757T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.1198863T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.977729T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.983325T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.977774T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.983359T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.2:g.1021281C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.1:g.1020579C>T
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.2:g.977343T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.1:g.982963T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.977589T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.983174T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.312T=0.688
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.151T=0.849
1000GenomesEuropeSub1006C=0.246T=0.754
1000GenomesGlobalStudy-wide5008C=0.235T=0.765
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.224T=0.776
The Genome Aggregation DatabaseAfricanSub8692C=0.304T=0.696
The Genome Aggregation DatabaseAmericanSub834C=0.260T=0.740
The Genome Aggregation DatabaseEast AsianSub1622C=0.122T=0.878
The Genome Aggregation DatabaseEuropeSub18444C=0.260T=0.739
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.265T=0.734
The Genome Aggregation DatabaseOtherSub302C=0.250T=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.255T=0.744
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.215T=0.785
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
rs16113710.000352alcohol dependence20201924

eQTL of rs1611371 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:29680021RPL23AP1ENSG00000239257.1C>T3.1209e-7-14638Cerebellum
Chr6:29680021MICEENSG00000273340.1C>T7.2793e-10-32990Cerebellum
Chr6:29680021HLA-F-AS1ENSG00000214922.5C>T8.4756e-13-36749Cerebellum
Chr6:29680021HLA-HENSG00000206341.6C>T8.7137e-7-176223Cortex
Chr6:29680021NRMENSG00000137404.10C>T3.4589e-9-979176Cortex
Chr6:29680021MICEENSG00000273340.1C>T2.3222e-6-32990Cerebellar_Hemisphere
Chr6:29680021HLA-F-AS1ENSG00000214922.5C>T2.4717e-9-36749Cerebellar_Hemisphere
Chr6:29680021HLA-HENSG00000206341.6C>T2.5783e-22-176223Cerebellar_Hemisphere
Chr6:29680021HLA-HENSG00000206341.6C>T5.2793e-5-176223Caudate_basal_ganglia
Chr6:29680021HLA-KENSG00000230795.2C>T3.1711e-10-214934Hippocampus
Chr6:29680021HLA-HENSG00000206341.6C>T3.0019e-6-176223Putamen_basal_ganglia
Chr6:29680021HLA-KENSG00000230795.2C>T9.2361e-15-214934Nucleus_accumbens_basal_ganglia

meQTL of rs1611371 in Fetal Brain

Probe ID Position Gene beta p-value
cg04186657chr6:29690893HLA-F-0.1026322482784752.7864e-16
cg11768167chr6:29690889HLA-F-0.0863072479114435.1312e-15
cg22298860chr6:29690822HLA-F-0.06649141451713634.4757e-13
cg11201654chr6:29690766HLA-F-0.09604161989885347.2404e-13
cg21114334chr6:29720137IFITM4P-0.05733945272961323.9472e-10

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 )
chr62963028929630395E067-49626
chr62963047929630577E067-49444
chr62963362729634063E067-45958
chr62963415729634383E067-45638
chr62969271529692823E06712694
chr62963362729634063E068-45958
chr62963415729634383E068-45638
chr62969380329694252E06813782
chr62963123129631471E069-48550
chr62963148829631807E069-48214
chr62963362729634063E069-45958
chr62963415729634383E069-45638
chr62963446629635320E069-44701
chr62969311229693419E06913091
chr62963148829631807E071-48214
chr62963187729631934E071-48087
chr62963231529632365E071-47656
chr62963362729634063E071-45958
chr62963415729634383E071-45638
chr62963446629635320E071-44701
chr62967022329670696E071-9325
chr62969311229693419E07113091
chr62969344129693782E07113420
chr62969380329694252E07113782
chr62972139829721522E07141377
chr62963123129631471E072-48550
chr62963148829631807E072-48214
chr62963187729631934E072-48087
chr62963362729634063E072-45958
chr62963415729634383E072-45638
chr62963446629635320E072-44701
chr62968070729680766E072686
chr62969271529692823E07212694
chr62969311229693419E07213091
chr62969271529692823E07312694
chr62969311229693419E07313091
chr62963338429633535E074-46486
chr62963362729634063E074-45958
chr62963415729634383E074-45638
chr62963446629635320E074-44701
chr62963547529635581E074-44440







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr62969068329691732E06710662
chr62969176029692347E06711739
chr62971613729717716E06736116
chr62971991229720033E06739891
chr62972005329720120E06740032
chr62972015629721181E06740135
chr62969068329691732E06810662
chr62969176029692347E06811739
chr62971613729717716E06836116
chr62971991229720033E06839891
chr62972005329720120E06840032
chr62972015629721181E06840135
chr62969068329691732E06910662
chr62969176029692347E06911739
chr62971613729717716E06936116
chr62971991229720033E06939891
chr62972005329720120E06940032
chr62972015629721181E06940135
chr62971991229720033E07039891
chr62972005329720120E07040032
chr62972015629721181E07040135
chr62969068329691732E07110662
chr62969176029692347E07111739
chr62971613729717716E07136116
chr62971991229720033E07139891
chr62972005329720120E07140032
chr62972015629721181E07140135
chr62969068329691732E07210662
chr62969176029692347E07211739
chr62971613729717716E07236116
chr62971991229720033E07239891
chr62972005329720120E07240032
chr62972015629721181E07240135
chr62969068329691732E07310662
chr62969176029692347E07311739
chr62971613729717716E07336116
chr62971991229720033E07339891
chr62972005329720120E07340032
chr62972015629721181E07340135
chr62969068329691732E07410662
chr62969176029692347E07411739
chr62971613729717716E07436116
chr62972015629721181E07440135
chr62969068329691732E08210662
chr62969176029692347E08211739
chr62971613729717716E08236116
chr62972015629721181E08240135