rs6503513

Homo sapiens
A>G
MED1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0324 (9720/29926,GnomAD)
G=0414 (12069/29118,TOPMED)
G=0337 (1686/5008,1000G)
G=0189 (727/3854,ALSPAC)
G=0193 (715/3708,TWINSUK)
chr17:39405360 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39405360A>G
GRCh37.p13 chr 17NC_000017.10:g.37561613A>G
MED1 RefSeqGeneNG_046996.1:g.50921T>C

Gene: MED1, mediator complex subunit 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MED1 transcriptNM_004774.3:c.N/A3 Prime UTR Variant
MED1 transcript variant X3XM_006721957.1:c.N/AIntron Variant
MED1 transcript variant X1XM_005257465.3:c.N/A3 Prime UTR Variant
MED1 transcript variant X2XM_017024779.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.293G=0.707
1000GenomesAmericanSub694A=0.710G=0.290
1000GenomesEast AsianSub1008A=0.738G=0.262
1000GenomesEuropeSub1006A=0.814G=0.186
1000GenomesGlobalStudy-wide5008A=0.663G=0.337
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.811G=0.189
The Genome Aggregation DatabaseAfricanSub8712A=0.353G=0.647
The Genome Aggregation DatabaseAmericanSub836A=0.730G=0.270
The Genome Aggregation DatabaseEast AsianSub1620A=0.695G=0.305
The Genome Aggregation DatabaseEuropeSub18456A=0.822G=0.177
The Genome Aggregation DatabaseGlobalStudy-wide29926A=0.675G=0.324
The Genome Aggregation DatabaseOtherSub302A=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.585G=0.414
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.807G=0.193
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
rs65035130.00096alcohol dependence20201924

eQTL of rs6503513 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 rs6503513 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.02430563640868492.3747e-19
cg07936489chr17:37558343FBXL200.0243056362.3700e-19

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 )
chr173751386237514579E067-47034
chr173751611437516171E067-45442
chr173751648837516581E067-45032
chr173751691737517090E067-44523
chr173751733237517382E067-44231
chr173751748037517548E067-44065
chr173752197737522114E067-39499
chr173752229537522372E067-39241
chr173752257237522676E067-38937
chr173754134337541393E067-20220
chr173755575637555808E067-5805
chr173755588837555928E067-5685
chr173755614737556212E067-5401
chr173751648837516581E068-45032
chr173751691737517090E068-44523
chr173751733237517382E068-44231
chr173751748037517548E068-44065
chr173753639237536664E068-24949
chr173755614737556212E068-5401
chr173751648837516581E069-45032
chr173751691737517090E069-44523
chr173751733237517382E069-44231
chr173751748037517548E069-44065
chr173752229537522372E069-39241
chr173753639237536664E069-24949
chr173755614737556212E069-5401
chr173751538737515442E070-46171
chr173751691737517090E070-44523
chr173751733237517382E070-44231
chr173751748037517548E070-44065
chr173755575637555808E070-5805
chr173755588837555928E070-5685
chr173760526737605460E07043654
chr173760550737605677E07043894
chr173760612037606170E07044507
chr173751386237514579E071-47034
chr173751611437516171E071-45442
chr173751648837516581E071-45032
chr173751691737517090E071-44523
chr173751733237517382E071-44231
chr173751748037517548E071-44065
chr173751768337517751E071-43862
chr173752197737522114E071-39499
chr173752229537522372E071-39241
chr173752257237522676E071-38937
chr173753639237536664E071-24949
chr173755614737556212E071-5401
chr173751648837516581E072-45032
chr173751691737517090E072-44523
chr173751733237517382E072-44231
chr173751748037517548E072-44065
chr173752197737522114E072-39499
chr173752229537522372E072-39241
chr173752257237522676E072-38937
chr173755614737556212E072-5401
chr173751691737517090E073-44523
chr173751733237517382E073-44231
chr173751648837516581E074-45032
chr173751691737517090E074-44523
chr173751733237517382E074-44231
chr173751748037517548E074-44065
chr173752257237522676E074-38937
chr173753727237537359E074-24254
chr173753811437538164E074-23449
chr173755485837554943E081-6670
chr173755575637555808E081-5805
chr173755588837555928E081-5685
chr173755614737556212E081-5401
chr173755575637555808E082-5805
chr173755588837555928E082-5685
chr173760526737605460E08243654
chr173760550737605677E08243894










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173755660737559334E067-2279
chr173760679237607810E06745179
chr173760811137608237E06746498
chr173755660737559334E068-2279
chr173760679237607810E06845179
chr173760811137608237E06846498
chr173755660737559334E069-2279
chr173760679237607810E06945179
chr173760811137608237E06946498
chr173755660737559334E070-2279
chr173760679237607810E07045179
chr173760811137608237E07046498
chr173755660737559334E071-2279
chr173760679237607810E07145179
chr173760811137608237E07146498
chr173755660737559334E072-2279
chr173760679237607810E07245179
chr173760811137608237E07246498
chr173755660737559334E073-2279
chr173760679237607810E07345179
chr173760811137608237E07346498
chr173755660737559334E074-2279
chr173760679237607810E07445179
chr173755660737559334E081-2279
chr173760679237607810E08145179
chr173755660737559334E082-2279
chr173760679237607810E08245179
chr173760811137608237E08246498