rs11723658

Homo sapiens
C>A
SLC7A11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0417 (12478/29858,GnomAD)
A=0415 (12100/29118,TOPMED)
A=0351 (1759/5008,1000G)
C==0486 (1873/3854,ALSPAC)
C==0498 (1845/3708,TWINSUK)
chr4:138236842 (GRCh38.p7) (4q28.3)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.138236842C>A
GRCh37.p13 chr 4NC_000004.11:g.139157996C>A

Gene: SLC7A11, solute carrier family 7 member 11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC7A11 transcriptNM_014331.3:c.N/AIntron Variant
SLC7A11 transcript variant X1XM_011531802.2:c.N/AIntron Variant
SLC7A11 transcript variant X2XR_001741190.1:n.N/AIntron Variant
SLC7A11 transcript variant X3XR_001741191.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.687A=0.313
1000GenomesAmericanSub694C=0.630A=0.370
1000GenomesEast AsianSub1008C=0.924A=0.076
1000GenomesEuropeSub1006C=0.471A=0.529
1000GenomesGlobalStudy-wide5008C=0.649A=0.351
1000GenomesSouth AsianSub978C=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.486A=0.514
The Genome Aggregation DatabaseAfricanSub8686C=0.683A=0.317
The Genome Aggregation DatabaseAmericanSub834C=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1618C=0.912A=0.088
The Genome Aggregation DatabaseEuropeSub18418C=0.508A=0.491
The Genome Aggregation DatabaseGlobalStudy-wide29858C=0.582A=0.417
The Genome Aggregation DatabaseOtherSub302C=0.400A=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.584A=0.415
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.498A=0.502
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
rs117236580.000401alcohol dependence20201924

eQTL of rs11723658 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 rs11723658 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 )
chr4139111862139112089E067-45907
chr4139113369139113560E067-44436
chr4139113946139114053E067-43943
chr4139117326139117382E067-40614
chr4139117524139117689E067-40307
chr4139137765139137896E067-20100
chr4139164687139164796E0676691
chr4139111862139112089E068-45907
chr4139113369139113560E068-44436
chr4139113946139114053E068-43943
chr4139117326139117382E068-40614
chr4139117524139117689E068-40307
chr4139120138139120236E068-37760
chr4139120562139121235E068-36761
chr4139121295139121376E068-36620
chr4139121466139121647E068-36349
chr4139137216139137335E068-20661
chr4139137628139137725E068-20271
chr4139137765139137896E068-20100
chr4139144219139144969E068-13027
chr4139145035139145156E068-12840
chr4139145176139145236E068-12760
chr4139146745139146852E068-11144
chr4139146898139147107E068-10889
chr4139147620139147854E068-10142
chr4139147915139147974E068-10022
chr4139164687139164796E0686691
chr4139198462139198624E06840466
chr4139198728139198786E06840732
chr4139111862139112089E069-45907
chr4139127083139127194E069-30802
chr4139137628139137725E069-20271
chr4139137765139137896E069-20100
chr4139144219139144969E069-13027
chr4139111862139112089E071-45907
chr4139120562139121235E071-36761
chr4139121295139121376E071-36620
chr4139136793139136977E071-21019
chr4139137028139137108E071-20888
chr4139137216139137335E071-20661
chr4139137628139137725E071-20271
chr4139137765139137896E071-20100
chr4139164687139164796E0716691
chr4139120562139121235E072-36761
chr4139137765139137896E072-20100
chr4139120562139121235E073-36761
chr4139137216139137335E073-20661
chr4139137628139137725E073-20271
chr4139137765139137896E073-20100
chr4139157334139157485E073-511
chr4139157575139157781E073-215
chr4139111862139112089E074-45907
chr4139113369139113560E074-44436
chr4139113946139114053E074-43943
chr4139120562139121235E074-36761
chr4139121295139121376E074-36620
chr4139126662139126720E074-31276
chr4139126773139127007E074-30989
chr4139136793139136977E074-21019
chr4139137028139137108E074-20888
chr4139137216139137335E074-20661
chr4139137628139137725E074-20271
chr4139137765139137896E074-20100
chr4139146745139146852E074-11144
chr4139146898139147107E074-10889
chr4139143090139143743E081-14253
chr4139182752139182802E08124756
chr4139183279139183954E08125283
chr4139184023139184208E08126027
chr4139143090139143743E082-14253
chr4139144219139144969E082-13027









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4139161757139161935E0673761
chr4139162350139162400E0674354
chr4139162454139162542E0674458
chr4139162555139163989E0674559
chr4139163993139164243E0675997
chr4139160394139160477E0682398
chr4139160651139161076E0682655
chr4139161757139161935E0683761
chr4139162350139162400E0684354
chr4139162454139162542E0684458
chr4139162555139163989E0684559
chr4139163993139164243E0685997
chr4139160651139161076E0692655
chr4139161757139161935E0693761
chr4139162350139162400E0694354
chr4139162454139162542E0694458
chr4139162555139163989E0694559
chr4139162555139163989E0704559
chr4139160394139160477E0712398
chr4139160651139161076E0712655
chr4139161757139161935E0713761
chr4139162350139162400E0714354
chr4139162454139162542E0714458
chr4139162555139163989E0714559
chr4139163993139164243E0715997
chr4139160394139160477E0722398
chr4139160651139161076E0722655
chr4139161757139161935E0723761
chr4139162350139162400E0724354
chr4139162454139162542E0724458
chr4139162555139163989E0724559
chr4139160394139160477E0732398
chr4139160651139161076E0732655
chr4139161757139161935E0733761
chr4139162350139162400E0734354
chr4139162454139162542E0734458
chr4139162555139163989E0734559
chr4139160651139161076E0742655
chr4139161757139161935E0743761
chr4139162350139162400E0744354
chr4139162454139162542E0744458
chr4139162555139163989E0744559
chr4139162555139163989E0814559