rs4706113

Homo sapiens
C>T
BCKDHB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0438 (13094/29886,GnomAD)
T=0417 (12141/29118,TOPMED)
C==0465 (2331/5008,1000G)
C==0500 (1927/3854,ALSPAC)
T=0500 (1927/3854,ALSPAC)
T=0490 (1816/3708,TWINSUK)
chr6:80129598 (GRCh38.p7) (6q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.80129598C>T
GRCh37.p13 chr 6NC_000006.11:g.80839315C>T
BCKDHB RefSeqGeneNG_009775.1:g.27972C>T

Gene: BCKDHB, branched chain keto acid dehydrogenase E1, beta polypeptide(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BCKDHB transcript variant 2NM_000056.4:c.N/AIntron Variant
BCKDHB transcript variant 3NM_001318975.1:c.N/AIntron Variant
BCKDHB transcript variant 1NM_183050.3:c.N/AIntron Variant
BCKDHB transcript variant 4NR_134945.1:n.N/AIntron Variant
BCKDHB transcript variant X2XM_005248756.4:c.N/AIntron Variant
BCKDHB transcript variant X5XM_011536023.2:c.N/AIntron Variant
BCKDHB transcript variant X7XM_011536024.2:c.N/AIntron Variant
BCKDHB transcript variant X8XM_011536025.2:c.N/AIntron Variant
BCKDHB transcript variant X9XM_011536026.2:c.N/AIntron Variant
BCKDHB transcript variant X1XR_001743546.1:n.N/AIntron Variant
BCKDHB transcript variant X3XR_001743547.1:n.N/AIntron Variant
BCKDHB transcript variant X4XR_001743548.1:n.N/AIntron Variant
BCKDHB transcript variant X6XR_001743549.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.765T=0.235
1000GenomesAmericanSub694C=0.350T=0.650
1000GenomesEast AsianSub1008C=0.304T=0.696
1000GenomesEuropeSub1006C=0.485T=0.515
1000GenomesGlobalStudy-wide5008C=0.465T=0.535
1000GenomesSouth AsianSub978C=0.290T=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.500T=0.500
The Genome Aggregation DatabaseAfricanSub8692C=0.730T=0.270
The Genome Aggregation DatabaseAmericanSub838C=0.340T=0.660
The Genome Aggregation DatabaseEast AsianSub1610C=0.301T=0.699
The Genome Aggregation DatabaseEuropeSub18446C=0.517T=0.482
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.561T=0.438
The Genome Aggregation DatabaseOtherSub300C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.583T=0.417
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.510T=0.490
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
rs47061130.000071alcohol dependence20201924
rs47061130.0000714alcoholismpha002893
rs47061130.0000728alcoholismpha002892
rs47061130.000073alcohol dependence(early age of onset)20201924

eQTL of rs4706113 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 rs4706113 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 )
chr68081536380815467E067-23848
chr68081734580817622E067-21693
chr68085302180853694E06713706
chr68085455480854678E06715239
chr68085480880854908E06715493
chr68085495980855036E06715644
chr68081536380815467E068-23848
chr68081734580817622E068-21693
chr68084275980843044E0683444
chr68085288080852935E06813565
chr68085302180853694E06813706
chr68081536380815467E069-23848
chr68081734580817622E069-21693
chr68084275980843044E0693444
chr68085288080852935E06913565
chr68085302180853694E07013706
chr68087123780871352E07031922
chr68081734580817622E071-21693
chr68085302180853694E07113706
chr68085381380853863E07114498
chr68085402180854071E07114706
chr68085455480854678E07115239
chr68085480880854908E07115493
chr68085495980855036E07115644
chr68081734580817622E072-21693
chr68085288080852935E07213565
chr68085302180853694E07213706
chr68085288080852935E07313565
chr68085302180853694E07313706
chr68081734580817622E074-21693
chr68085455480854678E07415239
chr68085302180853694E08113706
chr68085455480854678E08115239
chr68085480880854908E08115493
chr68085495980855036E08115644
chr68081734580817622E082-21693
chr68085302180853694E08213706
chr68085381380853863E08214498
chr68085402180854071E08214706
chr68085455480854678E08215239
chr68085480880854908E08215493
chr68085495980855036E08215644










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr68081586280816976E067-22339
chr68081586280816976E068-22339
chr68081710980817165E068-22150
chr68081586280816976E069-22339
chr68081586280816976E070-22339
chr68081586280816976E071-22339
chr68081710980817165E071-22150
chr68081586280816976E072-22339
chr68081710980817165E072-22150
chr68081586280816976E073-22339
chr68081710980817165E073-22150
chr68081586280816976E074-22339
chr68081710980817165E074-22150
chr68081586280816976E081-22339
chr68081586280816976E082-22339