rs7501488

Homo sapiens
T>G
MED1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0369 (10909/29558,GnomAD)
T==0448 (13066/29118,TOPMED)
T==0361 (1807/5008,1000G)
T==0254 (980/3854,ALSPAC)
T==0263 (974/3708,TWINSUK)
chr17:39420164 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
37 Enhancers around
62 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39420164T>G
GRCh37.p13 chr 17NC_000017.10:g.37576417T>G
MED1 RefSeqGeneNG_046996.1:g.36117A>C

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

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.718G=0.282
1000GenomesAmericanSub694T=0.340G=0.660
1000GenomesEast AsianSub1008T=0.262G=0.738
1000GenomesEuropeSub1006T=0.251G=0.749
1000GenomesGlobalStudy-wide5008T=0.361G=0.639
1000GenomesSouth AsianSub978T=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.254G=0.746
The Genome Aggregation DatabaseAfricanSub8596T=0.667G=0.333
The Genome Aggregation DatabaseAmericanSub828T=0.300G=0.700
The Genome Aggregation DatabaseEast AsianSub1614T=0.305G=0.695
The Genome Aggregation DatabaseEuropeSub18218T=0.237G=0.762
The Genome Aggregation DatabaseGlobalStudy-wide29558T=0.369G=0.630
The Genome Aggregation DatabaseOtherSub302T=0.350G=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.448G=0.551
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.263G=0.737
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
rs75014880.000592alcohol dependence20201924

eQTL of rs7501488 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 rs7501488 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01933712867080671.7063e-14
cg15445000chr17:37608096MED1-0.04612940573617265.1568e-12
cg00129232chr17:37814104STARD30.006097714374915933.4725e-10
cg20243544chr17:37824526PNMT-0.01445859032405279.5907e-10
cg07936489chr17:37558343FBXL200.0193371291.7100e-14

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 )
chr173754134337541393E067-35024
chr173755575637555808E067-20609
chr173755588837555928E067-20489
chr173755614737556212E067-20205
chr173762188337621933E06745466
chr173762213237622327E06745715
chr173753639237536664E068-39753
chr173755614737556212E068-20205
chr173762393437623984E06847517
chr173753639237536664E069-39753
chr173755614737556212E069-20205
chr173762188337621933E06945466
chr173762213237622327E06945715
chr173755575637555808E070-20609
chr173755588837555928E070-20489
chr173760526737605460E07028850
chr173760550737605677E07029090
chr173760612037606170E07029703
chr173762213237622327E07045715
chr173753639237536664E071-39753
chr173755614737556212E071-20205
chr173762213237622327E07145715
chr173755614737556212E072-20205
chr173753727237537359E074-39058
chr173753811437538164E074-38253
chr173755485837554943E081-21474
chr173755575637555808E081-20609
chr173755588837555928E081-20489
chr173755614737556212E081-20205
chr173762188337621933E08145466
chr173762213237622327E08145715
chr173762393437623984E08147517
chr173755575637555808E082-20609
chr173755588837555928E082-20489
chr173760526737605460E08228850
chr173760550737605677E08229090
chr173762213237622327E08245715









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173755660737559334E067-17083
chr173760679237607810E06730375
chr173760811137608237E06731694
chr173761731337619882E06740896
chr173761996037620016E06743543
chr173762012337620173E06743706
chr173755660737559334E068-17083
chr173760679237607810E06830375
chr173760811137608237E06831694
chr173761705837617146E06840641
chr173761731337619882E06840896
chr173761996037620016E06843543
chr173762012337620173E06843706
chr173755660737559334E069-17083
chr173760679237607810E06930375
chr173760811137608237E06931694
chr173761731337619882E06940896
chr173761996037620016E06943543
chr173762012337620173E06943706
chr173755660737559334E070-17083
chr173760679237607810E07030375
chr173760811137608237E07031694
chr173761731337619882E07040896
chr173761996037620016E07043543
chr173762012337620173E07043706
chr173755660737559334E071-17083
chr173760679237607810E07130375
chr173760811137608237E07131694
chr173761705837617146E07140641
chr173761731337619882E07140896
chr173761996037620016E07143543
chr173762012337620173E07143706
chr173755660737559334E072-17083
chr173760679237607810E07230375
chr173760811137608237E07231694
chr173761705837617146E07240641
chr173761731337619882E07240896
chr173761996037620016E07243543
chr173762012337620173E07243706
chr173755660737559334E073-17083
chr173760679237607810E07330375
chr173760811137608237E07331694
chr173761731337619882E07340896
chr173761996037620016E07343543
chr173762012337620173E07343706
chr173755660737559334E074-17083
chr173760679237607810E07430375
chr173761705837617146E07440641
chr173761731337619882E07440896
chr173761996037620016E07443543
chr173762012337620173E07443706
chr173755660737559334E081-17083
chr173760679237607810E08130375
chr173761731337619882E08140896
chr173761996037620016E08143543
chr173762012337620173E08143706
chr173755660737559334E082-17083
chr173760679237607810E08230375
chr173760811137608237E08231694
chr173761731337619882E08240896
chr173761996037620016E08243543
chr173762012337620173E08243706