rs11765514

Homo sapiens
G>T
FAM188B : Intron Variant
INMT-FAM188B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0236 (7070/29938,GnomAD)
T=0179 (5231/29118,TOPMED)
T=0150 (750/5008,1000G)
T=0318 (1227/3854,ALSPAC)
T=0319 (1184/3708,TWINSUK)
chr7:30781314 (GRCh38.p7) (7p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.30781314G>T
GRCh37.p13 chr 7NC_000007.13:g.30820930G>T

Gene: FAM188B, family with sequence similarity 188 member B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MINDY4 transcriptNM_032222.2:c.N/AIntron Variant

Gene: INMT-FAM188B, INMT-FAM188B readthrough (NMD candidate)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
INMT-MINDY4 transcriptNR_037598.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.984T=0.016
1000GenomesAmericanSub694G=0.730T=0.270
1000GenomesEast AsianSub1008G=0.978T=0.022
1000GenomesEuropeSub1006G=0.707T=0.293
1000GenomesGlobalStudy-wide5008G=0.850T=0.150
1000GenomesSouth AsianSub978G=0.770T=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.682T=0.318
The Genome Aggregation DatabaseAfricanSub8722G=0.942T=0.058
The Genome Aggregation DatabaseAmericanSub836G=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1622G=0.985T=0.015
The Genome Aggregation DatabaseEuropeSub18458G=0.661T=0.339
The Genome Aggregation DatabaseGlobalStudy-wide29938G=0.763T=0.236
The Genome Aggregation DatabaseOtherSub300G=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.820T=0.179
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.681T=0.319
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs117655140.000751alcohol dependence21314694

eQTL of rs11765514 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:30820930AQP1ENSG00000240583.6G>T1.7678e-3-130540Cortex

meQTL of rs11765514 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 )
chr73079006630791508E067-29422
chr73084518730845296E06724257
chr73084530930845359E06724379
chr73079006630791508E068-29422
chr73079490430795851E068-25079
chr73080365730804869E068-16061
chr73080488030805174E068-15756
chr73081233630812376E068-8554
chr73081255130812642E068-8288
chr73081266730812761E068-8169
chr73084334730843516E06822417
chr73084518730845296E06824257
chr73084530930845359E06824379
chr73085443030854995E06833500
chr73085503630855501E06834106
chr73083893930841063E06918009
chr73085503630855501E06934106
chr73079006630791508E071-29422
chr73079490430795851E071-25079
chr73081233630812376E071-8554
chr73081255130812642E071-8288
chr73081266730812761E071-8169
chr73084518730845296E07124257
chr73084530930845359E07124379
chr73084540830846218E07124478
chr73079006630791508E072-29422
chr73079490430795851E072-25079
chr73081233630812376E072-8554
chr73081255130812642E072-8288
chr73081266730812761E072-8169
chr73085443030854995E07233500
chr73085503630855501E07234106
chr73079006630791508E073-29422
chr73079490430795851E073-25079
chr73081767330817941E073-2989
chr73081796230818189E073-2741
chr73081819230818267E073-2663
chr73081833230818633E073-2297
chr73084530930845359E07324379
chr73085443030854995E07333500
chr73085503630855501E07334106
chr73085550830857271E07334578
chr73080365730804869E074-16061
chr73080975430810605E074-10325
chr73081233630812376E074-8554
chr73084442330844640E07423493
chr73084471230844841E07423782
chr73084506530845115E07424135
chr73084518730845296E07424257
chr73084530930845359E07424379
chr73084540830846218E07424478
chr73085503630855501E07434106
chr73077309230773426E081-47504
chr73077363230773777E081-47153
chr73077380930773859E081-47071
chr73077390130774003E081-46927
chr73080365730804869E081-16061
chr73080488030805174E081-15756
chr73080668630807040E081-13890
chr73077309230773426E082-47504









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73081061430812083E067-8847
chr73081061430812083E068-8847
chr73081061430812083E069-8847
chr73081061430812083E070-8847
chr73081061430812083E071-8847
chr73081061430812083E072-8847
chr73081061430812083E073-8847
chr73081061430812083E074-8847
chr73081061430812083E081-8847
chr73081061430812083E082-8847