rs3860052

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
T==0465 (13933/29924,GnomAD)
G=0486 (14152/29118,TOPMED)
G=0354 (1771/5008,1000G)
T==0335 (1291/3854,ALSPAC)
T==0315 (1168/3708,TWINSUK)
chr12:75958919 (GRCh38.p7) (12q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.75958919T>G
GRCh37.p13 chr 12NC_000012.11:g.76352699T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.741G=0.259
1000GenomesAmericanSub694T=0.470G=0.530
1000GenomesEast AsianSub1008T=0.872G=0.128
1000GenomesEuropeSub1006T=0.342G=0.658
1000GenomesGlobalStudy-wide5008T=0.646G=0.354
1000GenomesSouth AsianSub978T=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.335G=0.665
The Genome Aggregation DatabaseAfricanSub8714T=0.673G=0.327
The Genome Aggregation DatabaseAmericanSub838T=0.450G=0.550
The Genome Aggregation DatabaseEast AsianSub1620T=0.875G=0.125
The Genome Aggregation DatabaseEuropeSub18454T=0.334G=0.665
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.465G=0.534
The Genome Aggregation DatabaseOtherSub298T=0.320G=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.514G=0.486
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.315G=0.685
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
rs38600520.000959alcohol dependence21314694

eQTL of rs3860052 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 rs3860052 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 )
chr127637147576372757E06718776
chr127638023576380460E06727536
chr127637117376371467E06818474
chr127637147576372757E06818776
chr127637958576380102E06826886
chr127635370876354588E0691009
chr127637147576372757E06918776
chr127634624676346346E070-6353
chr127634638676347033E070-5666
chr127637511076375550E07022411
chr127637958576380102E07026886
chr127637147576372757E07118776
chr127637947576379555E07126776
chr127637958576380102E07126886
chr127637147576372757E07218776
chr127637147576372757E07318776
chr127634703676348377E074-4322
chr127635370876354588E0741009
chr127637147576372757E07418776
chr127633193576332612E081-20087
chr127634624676346346E081-6353
chr127634638676347033E081-5666
chr127634703676348377E081-4322
chr127640103176401343E08148332
chr127640140276401712E08148703
chr127634638676347033E082-5666
chr127634703676348377E082-4322