rs11060247

Homo sapiens
C>G / C>T
TMEM132D : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0055 (1676/29972,GnomAD)
T=0049 (244/5008,1000G)
T=0078 (302/3854,ALSPAC)
T=0078 (290/3708,TWINSUK)
chr12:129319609 (GRCh38.p7) (12q24.33)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.129319609C>G
GRCh38.p7 chr 12NC_000012.12:g.129319609C>T
GRCh37.p13 chr 12NC_000012.11:g.129804154C>G
GRCh37.p13 chr 12NC_000012.11:g.129804154C>T

Gene: TMEM132D, transmembrane protein 132D(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM132D transcriptNM_133448.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.931T=0.069
1000GenomesGlobalStudy-wide5008C=0.951T=0.049
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.922T=0.078
The Genome Aggregation DatabaseAfricanSub8724C=0.986G=0.000
The Genome Aggregation DatabaseAmericanSub838C=0.920G=0.00,
The Genome Aggregation DatabaseEast AsianSub1620C=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18488C=0.920G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.943G=0.000
The Genome Aggregation DatabaseOtherSub302C=0.950G=0.00,
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.922T=0.078
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
rs110602470.00075alcohol dependence20201924

eQTL of rs11060247 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 rs11060247 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 )
chr12119740136119740937E06830708
chr12119741069119741319E06831641
chr12119740136119740937E06930708
chr12119740136119740937E07030708
chr12119741069119741319E07031641
chr12119740136119740937E07130708
chr12119741069119741319E07131641
chr12119746610119747254E07137182
chr12119740136119740937E07230708
chr12119741069119741319E07231641
chr12119726428119726795E07317000
chr12119740136119740937E07430708
chr12119746379119746514E07436951
chr12119746610119747254E07437182
chr12119726170119726220E08116742
chr12119726428119726795E08117000
chr12119746610119747254E08137182
chr12119720936119721010E08211508
chr12119721173119721420E08211745
chr12119726170119726220E08216742
chr12119726428119726795E08217000









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12119667666119668040E067-41388
chr12119668076119668241E067-41187
chr12119667666119668040E068-41388
chr12119668076119668241E068-41187
chr12119667666119668040E069-41388
chr12119668076119668241E069-41187
chr12119667666119668040E071-41388
chr12119668076119668241E071-41187
chr12119667666119668040E072-41388
chr12119668076119668241E072-41187
chr12119667666119668040E073-41388
chr12119668076119668241E073-41187
chr12119667666119668040E074-41388
chr12119667666119668040E082-41388
chr12119668076119668241E082-41187