rs11138516

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0115 (3452/29944,GnomAD)
T=0090 (2636/29118,TOPMED)
T=0068 (339/5008,1000G)
T=0155 (599/3854,ALSPAC)
T=0168 (624/3708,TWINSUK)
chr9:80144587 (GRCh38.p7) (9q21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.80144587C>T
GRCh37.p13 chr 9NC_000009.11:g.82759502C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.970T=0.030
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.845T=0.155
1000GenomesGlobalStudy-wide5008C=0.932T=0.068
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.845T=0.155
The Genome Aggregation DatabaseAfricanSub8718C=0.956T=0.044
The Genome Aggregation DatabaseAmericanSub836C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1616C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18472C=0.840T=0.159
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.884T=0.115
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.909T=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.832T=0.168
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs111385169.96E-05alcohol consumption23953852

eQTL of rs11138516 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 rs11138516 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 )
chr98277356582774172E06814063
chr98277177482773115E07012272
chr98277316182773374E07013659
chr98277338882773483E07013886
chr98277356582774172E07014063
chr98277177482773115E08212272
chr98277316182773374E08213659
chr98277338882773483E08213886
chr98277356582774172E08214063