rs2621323

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0363 (10869/29884,GnomAD)
G=0373 (10888/29118,TOPMED)
G=0428 (2145/5008,1000G)
G=0293 (1128/3854,ALSPAC)
G=0282 (1046/3708,TWINSUK)
chr6:32820930 (GRCh38.p7) (6p21.32)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.32820930A>G
GRCh37.p13 chr 6NC_000006.11:g.32788707A>G
TAP2 RefSeqGeneNG_009793.3:g.22841T>C
HLA-DOB RefSeqGeneNG_012008.1:g.1119T>C
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.3:g.4233131A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1NT_113891.2:g.4233237A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.2:g.4120018A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1NT_167247.1:g.4125603A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.2:g.4015218A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1NT_167248.1:g.4020814A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.2:g.4064648G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1NT_167245.1:g.4070233G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.2:g.4220332G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1NT_167249.1:g.4219630G>A
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.2:g.4240283A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1NT_167246.1:g.4245903A>G
GRCh38.p7 chr 6 alt locus HSCHR6_MHC_APD_CTG1NT_167244.2:g.4125944G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1NT_167244.1:g.4075860G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.593G=0.407
1000GenomesAmericanSub694A=0.600G=0.400
1000GenomesEast AsianSub1008A=0.573G=0.427
1000GenomesEuropeSub1006A=0.655G=0.345
1000GenomesGlobalStudy-wide5008A=0.572G=0.428
1000GenomesSouth AsianSub978A=0.440G=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.707G=0.293
The Genome Aggregation DatabaseAfricanSub8694A=0.616G=0.384
The Genome Aggregation DatabaseAmericanSub838A=0.550G=0.450
The Genome Aggregation DatabaseEast AsianSub1600A=0.616G=0.384
The Genome Aggregation DatabaseEuropeSub18450A=0.652G=0.347
The Genome Aggregation DatabaseGlobalStudy-wide29884A=0.636G=0.363
The Genome Aggregation DatabaseOtherSub302A=0.560G=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.626G=0.373
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.718G=0.282
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
rs26213230.00041alcohol dependence20201924

eQTL of rs2621323 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.9928e-143882Cerebellum
Chr6:32788707HLA-DOBENSG00000241106.2A>G4.7721e-113882Frontal_Cortex_BA9
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.1851e-83882Hypothalamus
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.0541e-133882Cortex
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.6154e-93882Cerebellar_Hemisphere
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.9928e-113882Caudate_basal_ganglia
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.8342e-43882Brain_Spinal_cord_cervical
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.0737e-73882Hippocampus
Chr6:32788707HLA-DOBENSG00000241106.2A>G1.4959e-43882Substantia_nigra
Chr6:32788707HLA-DOBENSG00000241106.2A>G6.9503e-93882Putamen_basal_ganglia
Chr6:32788707HLA-DOBENSG00000241106.2A>G5.3216e-63882Anterior_cingulate_cortex
Chr6:32788707HLA-DOBENSG00000241106.2A>G2.6012e-103882Nucleus_accumbens_basal_ganglia
Chr6:32788707HLA-DOBENSG00000241106.2A>G4.9962e-43882Amygdala

meQTL of rs2621323 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 )
chr63279376932794052E0675062
chr63280471032804798E06716003
chr63281382432813885E06825117
chr63281388832814070E06825181
chr63281974032819875E06831033
chr63281974032819875E06931033
chr63279376932794052E0715062
chr63279425732794358E0715550
chr63281974032819875E07131033
chr63279376932794052E0725062
chr63279425732794358E0725550
chr63281974032819875E07231033
chr63279425732794358E0735550
chr63280471032804798E07316003
chr63281974032819875E07331033
chr63281053632810768E07421829
chr63281974032819875E07431033
chr63283579032836343E07447083







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63280573732806948E06717030
chr63281103432813766E06722327
chr63282033232820414E06731625
chr63282043532822762E06731728
chr63280573732806948E06817030
chr63281103432813766E06822327
chr63282033232820414E06831625
chr63282043532822762E06831728
chr63280573732806948E06917030
chr63281103432813766E06922327
chr63282033232820414E06931625
chr63282043532822762E06931728
chr63280573732806948E07017030
chr63281103432813766E07022327
chr63282033232820414E07031625
chr63282043532822762E07031728
chr63280573732806948E07117030
chr63281103432813766E07122327
chr63282033232820414E07131625
chr63282043532822762E07131728
chr63280573732806948E07217030
chr63281103432813766E07222327
chr63282033232820414E07231625
chr63282043532822762E07231728
chr63280573732806948E07317030
chr63281103432813766E07322327
chr63282033232820414E07331625
chr63282043532822762E07331728
chr63280573732806948E07417030
chr63281103432813766E07422327
chr63282033232820414E07431625
chr63282043532822762E07431728
chr63280573732806948E08217030
chr63281103432813766E08222327
chr63282043532822762E08231728