rs12943817

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0215 (6451/29916,GnomAD)
T=0183 (5334/29118,TOPMED)
T=0199 (999/5008,1000G)
T=0225 (867/3854,ALSPAC)
T=0221 (820/3708,TWINSUK)
chr17:8071516 (GRCh38.p7) (17p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.8071516C>T
GRCh37.p13 chr 17NC_000017.10:g.7974834C>T
ALOX12B RefSeqGeneNG_007099.1:g.21188G>A
ALOXE3P1 pseudogeneNG_026215.1:g.231C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.914T=0.086
1000GenomesAmericanSub694C=0.650T=0.350
1000GenomesEast AsianSub1008C=0.784T=0.216
1000GenomesEuropeSub1006C=0.773T=0.227
1000GenomesGlobalStudy-wide5008C=0.801T=0.199
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.775T=0.225
The Genome Aggregation DatabaseAfricanSub8716C=0.880T=0.120
The Genome Aggregation DatabaseAmericanSub836C=0.610T=0.390
The Genome Aggregation DatabaseEast AsianSub1620C=0.797T=0.203
The Genome Aggregation DatabaseEuropeSub18442C=0.745T=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.784T=0.215
The Genome Aggregation DatabaseOtherSub302C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.816T=0.183
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.779T=0.221
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
rs129438170.000543alcohol dependence20201924

eQTL of rs12943817 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 rs12943817 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 )
chr1779606577961511E069-13323
chr1780194088019471E07044574
chr1779606577961511E071-13323
chr1779615617961791E071-13043
chr1779606577961511E072-13323
chr1779615617961791E072-13043
chr1779631767963256E073-11578
chr1779452347945331E074-29503
chr1779453487945525E074-29309
chr1779606577961511E082-13323
chr1779615617961791E082-13043







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1779824937984262E0697659
chr1779661707966566E071-8268
chr1779666797966850E071-7984
chr1779824937984262E0717659
chr1779824937984262E0727659
chr1779824937984262E0737659
chr1780130328014363E07338198
chr1779824937984262E0827659