rs11071339

Homo sapiens
C>A
GCOM1 : Intron Variant
MYZAP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0365 (10945/29934,GnomAD)
C==0328 (1642/5008,1000G)
C==0359 (1385/3854,ALSPAC)
C==0362 (1344/3708,TWINSUK)
chr15:57663371 (GRCh38.p7) (15q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.57663371C>A
GRCh37.p13 chr 15NC_000015.9:g.57955569C>A

Gene: GCOM1, GRINL1A complex locus 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GCOM1 transcript variant 1NM_001018090.6:c.N/AIntron Variant
GCOM1 transcript variant 2NM_001018091.6:c.N/AIntron Variant
GCOM1 transcript variant 14NM_001285900.3:c.N/AIntron Variant
GCOM1 transcript variant 10NR_104367.2:n.N/AIntron Variant
GCOM1 transcript variant 3NR_104368.2:n.N/AIntron Variant
GCOM1 transcript variant 4NR_104369.2:n.N/AIntron Variant
GCOM1 transcript variant 5NR_104370.2:n.N/AIntron Variant
GCOM1 transcript variant 9NR_104371.3:n.N/AIntron Variant

Gene: MYZAP, myocardial zonula adherens protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYZAP transcript variant 1NM_001018100.4:c.N/AIntron Variant
MYZAP transcript variant 2NM_152451.7:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.455A=0.545
1000GenomesAmericanSub694C=0.400A=0.600
1000GenomesEast AsianSub1008C=0.131A=0.869
1000GenomesEuropeSub1006C=0.357A=0.643
1000GenomesGlobalStudy-wide5008C=0.328A=0.672
1000GenomesSouth AsianSub978C=0.280A=0.720
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.359A=0.641
The Genome Aggregation DatabaseAfricanSub8702C=0.421A=0.579
The Genome Aggregation DatabaseAmericanSub836C=0.390A=0.610
The Genome Aggregation DatabaseEast AsianSub1614C=0.134A=0.866
The Genome Aggregation DatabaseEuropeSub18482C=0.360A=0.639
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.365A=0.634
The Genome Aggregation DatabaseOtherSub300C=0.250A=0.750
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.362A=0.638
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
rs110713390.00092alcohol dependence20201924

eQTL of rs11071339 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 rs11071339 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 )
chr155791899557919271E067-36298
chr155797757357978382E06722004
chr155800065358000707E06745084
chr155800071258000777E06745143
chr155800099858001115E06745429
chr155791899557919271E068-36298
chr155793301257933062E069-22507
chr155793309457933165E069-22404
chr155794359757944076E069-11493
chr155794425757944318E069-11251
chr155800065358000707E06945084
chr155800071258000777E06945143
chr155800099858001115E06945429
chr155800128158001390E06945712
chr155800150858001558E06945939
chr155800166658001729E06946097
chr155791865757918798E070-36771
chr155791899557919271E070-36298
chr155792740157927490E070-28079
chr155792757257928252E070-27317
chr155800065358000707E07045084
chr155800071258000777E07045143
chr155794587757945927E071-9642
chr155800065358000707E07145084
chr155800071258000777E07145143
chr155800150858001558E07145939
chr155800166658001729E07146097
chr155800180558001849E07146236
chr155800186658001939E07146297
chr155794359757944076E072-11493
chr155794425757944318E072-11251
chr155794521057945307E072-10262
chr155800065358000707E07245084
chr155800071258000777E07245143
chr155800166658001729E07246097
chr155800180558001849E07246236
chr155800186658001939E07246297
chr155800150858001558E07345939
chr155800166658001729E07346097
chr155791196257912302E074-43267
chr155791232757912407E074-43162
chr155791899557919271E074-36298
chr155793432557934412E074-21157
chr155793448657934545E074-21024
chr155792757257928252E081-27317
chr155800150858001558E08145939
chr155792716557927209E082-28360
chr155792725657927365E082-28204
chr155792740157927490E082-28079
chr155792757257928252E082-27317
chr155792846857928518E082-27051
chr155792874457928794E082-26775
chr155800150858001558E08245939
chr155800166658001729E08246097
chr155800180558001849E08246236
chr155800186658001939E08246297
chr155800207458002128E08246505
chr155800299158003072E08247422










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr155799808658000532E06742517
chr155799808658000532E06842517
chr155799808658000532E06942517
chr155799808658000532E07042517
chr155799808658000532E07142517
chr155799808658000532E07242517
chr155799808658000532E07342517
chr155799808658000532E07442517
chr155799808658000532E08142517
chr155799808658000532E08242517