rs3914465

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0133 (3995/29968,GnomAD)
G=0108 (3165/29118,TOPMED)
G=0191 (957/5008,1000G)
G=0142 (546/3854,ALSPAC)
G=0137 (509/3708,TWINSUK)
chr2:226310193 (GRCh38.p7) (2q36.3)
AD
GWASdb2
1   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.226310193A>G
GRCh37.p13 chr 2NC_000002.11:g.227174909A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.958G=0.042
1000GenomesAmericanSub694A=0.810G=0.190
1000GenomesEast AsianSub1008A=0.655G=0.345
1000GenomesEuropeSub1006A=0.843G=0.157
1000GenomesGlobalStudy-wide5008A=0.809G=0.191
1000GenomesSouth AsianSub978A=0.730G=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.858G=0.142
The Genome Aggregation DatabaseAfricanSub8732A=0.946G=0.054
The Genome Aggregation DatabaseAmericanSub838A=0.790G=0.210
The Genome Aggregation DatabaseEast AsianSub1614A=0.639G=0.361
The Genome Aggregation DatabaseEuropeSub18482A=0.853G=0.146
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.866G=0.133
The Genome Aggregation DatabaseOtherSub302A=0.810G=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.891G=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.863G=0.137
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
rs39144650.0000185alcoholismpha002893
rs39144650.000019alcohol dependence20201924
rs39144650.00016alcohol dependence(early age of onset)20201924

eQTL of rs3914465 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 rs3914465 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 )
chr2227135520227135575E071-39334
chr2227136481227136574E071-38335
chr2227137217227137341E071-37568
chr2227199640227200328E07124731
chr2227137217227137341E072-37568
chr2227137466227137690E072-37219
chr2227137217227137341E074-37568
chr2227137466227137690E074-37219
chr2227199640227200328E07424731
chr2227159820227160820E081-14089
chr2227164979227165207E081-9702
chr2227165311227165452E081-9457
chr2227165697227166211E081-8698
chr2227176871227176911E0811962
chr2227177000227177137E0812091
chr2227177562227178192E0812653
chr2227159717227159772E082-15137
chr2227164979227165207E082-9702
chr2227165311227165452E082-9457
chr2227177562227178192E0822653