rs6964507

Homo sapiens
T>C
FAM133B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0061 (7283/117496,ExAC)
C=0056 (1679/29970,GnomAD)
C=0069 (2015/29118,TOPMED)
T==0041 (489/11886,GO-ESP)
C=0105 (528/5008,1000G)
C=0016 (62/3854,ALSPAC)
C=0018 (68/3708,TWINSUK)
chr7:92581624 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
177 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92581624T>C
GRCh37.p13 chr 7NC_000007.13:g.92210938T>C

Gene: FAM133B, family with sequence similarity 133 member B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM133B transcript variant 2NM_001040057.2:c.N/AIntron Variant
FAM133B transcript variant 3NM_001288584.1:c.N/AIntron Variant
FAM133B transcript variant 1NM_152789.3:c.N/AIntron Variant
FAM133B transcript variant 4NR_109929.1:n.N/AIntron Variant
FAM133B transcript variant X1XM_011516004.2:c.N/AIntron Variant
FAM133B transcript variant X2XM_011516005.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.899C=0.101
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.739C=0.261
1000GenomesEuropeSub1006T=0.982C=0.018
1000GenomesGlobalStudy-wide5008T=0.895C=0.105
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.984C=0.016
The Exome Aggregation ConsortiumAmericanSub20736T=0.868C=0.131
The Exome Aggregation ConsortiumAsianSub24506T=0.877C=0.122
The Exome Aggregation ConsortiumEuropeSub71374T=0.978C=0.021
The Exome Aggregation ConsortiumGlobalStudy-wide117496T=0.938C=0.061
The Exome Aggregation ConsortiumOtherSub880T=0.960C=0.040
The Genome Aggregation DatabaseAfricanSub8720T=0.907C=0.093
The Genome Aggregation DatabaseAmericanSub838T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1620T=0.714C=0.286
The Genome Aggregation DatabaseEuropeSub18490T=0.985C=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.944C=0.056
The Genome Aggregation DatabaseOtherSub302T=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.930C=0.069
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.982C=0.018
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
rs69645070.00098alcohol dependence20201924

eQTL of rs6964507 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:92210938RBM48ENSG00000127993.10T>C2.2782e-452851Hypothalamus

meQTL of rs6964507 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 )
chr79216383492163874E067-47064
chr79216392392164003E067-46935
chr79216404892164147E067-46791
chr79216480392164887E067-46051
chr79219272992193157E067-17781
chr79219327492193339E067-17599
chr79219339692193436E067-17502
chr79221422092214288E0673282
chr79221431292214375E0673374
chr79221437892214565E0673440
chr79221768592217738E0676747
chr79221780592217920E0676867
chr79222056492220784E0679626
chr79224158592242488E06730647
chr79224265392242942E06731715
chr79224319892243276E06732260
chr79224336292243466E06732424
chr79224353092243580E06732592
chr79224382292244544E06732884
chr79224470292244752E06733764
chr79225027892251282E06739340
chr79225147992251660E06740541
chr79225167192251805E06740733
chr79219647792196827E068-14111
chr79219684192197097E068-13841
chr79221422092214288E0683282
chr79221431292214375E0683374
chr79221437892214565E0683440
chr79221768592217738E0686747
chr79221780592217920E0686867
chr79223853792238611E06827599
chr79224158592242488E06830647
chr79224265392242942E06831715
chr79224319892243276E06832260
chr79224336292243466E06832424
chr79224353092243580E06832592
chr79224367592243715E06832737
chr79224382292244544E06832884
chr79224470292244752E06833764
chr79224492192244971E06833983
chr79224505392245127E06834115
chr79224531292245448E06834374
chr79225027892251282E06839340
chr79216383492163874E069-47064
chr79216392392164003E069-46935
chr79216404892164147E069-46791
chr79216480392164887E069-46051
chr79216553392165573E069-45365
chr79221422092214288E0693282
chr79221431292214375E0693374
chr79221437892214565E0693440
chr79221575892216105E0694820
chr79221615992216213E0695221
chr79221627092216374E0695332
chr79221768592217738E0696747
chr79221780592217920E0696867
chr79223853792238611E06927599
chr79224158592242488E06930647
chr79224265392242942E06931715
chr79224319892243276E06932260
chr79224336292243466E06932424
chr79224353092243580E06932592
chr79224382292244544E06932884
chr79224470292244752E06933764
chr79224492192244971E06933983
chr79224505392245127E06934115
chr79224531292245448E06934374
chr79224549992245584E06934561
chr79224558892245638E06934650
chr79225027892251282E06939340
chr79224531292245448E07034374
chr79224549992245584E07034561
chr79221379692214126E0712858
chr79221575892216105E0714820
chr79221615992216213E0715221
chr79221627092216374E0715332
chr79221682492216874E0715886
chr79221695492217049E0716016
chr79221708592217135E0716147
chr79221714692217196E0716208
chr79221733292217399E0716394
chr79222056492220784E0719626
chr79223865092238700E07127712
chr79223902492239074E07128086
chr79224158592242488E07130647
chr79224265392242942E07131715
chr79224319892243276E07132260
chr79224336292243466E07132424
chr79224353092243580E07132592
chr79224367592243715E07132737
chr79224382292244544E07132884
chr79224470292244752E07133764
chr79224492192244971E07133983
chr79224505392245127E07134115
chr79224531292245448E07134374
chr79225011592250190E07139177
chr79225027892251282E07139340
chr79225147992251660E07140541
chr79225167192251805E07140733
chr79225208292252273E07141144
chr79225229992252467E07141361
chr79225266892252752E07141730
chr79225277492253115E07141836
chr79216392392164003E072-46935
chr79216404892164147E072-46791
chr79219647792196827E072-14111
chr79221422092214288E0723282
chr79221431292214375E0723374
chr79221437892214565E0723440
chr79221575892216105E0724820
chr79221615992216213E0725221
chr79221627092216374E0725332
chr79221768592217738E0726747
chr79221780592217920E0726867
chr79222056492220784E0729626
chr79223853792238611E07227599
chr79224265392242942E07231715
chr79224319892243276E07232260
chr79224336292243466E07232424
chr79224353092243580E07232592
chr79224367592243715E07232737
chr79224382292244544E07232884
chr79224470292244752E07233764
chr79224492192244971E07233983
chr79224505392245127E07234115
chr79225027892251282E07239340
chr79218984692189963E073-20975
chr79221379692214126E0732858
chr79221422092214288E0733282
chr79221431292214375E0733374
chr79221437892214565E0733440
chr79221575892216105E0734820
chr79221615992216213E0735221
chr79221627092216374E0735332
chr79221768592217738E0736747
chr79221780592217920E0736867
chr79222056492220784E0739626
chr79224265392242942E07331715
chr79224319892243276E07332260
chr79224382292244544E07332884
chr79225027892251282E07339340
chr79216383492163874E074-47064
chr79216392392164003E074-46935
chr79216404892164147E074-46791
chr79221422092214288E0743282
chr79221431292214375E0743374
chr79221437892214565E0743440
chr79221575892216105E0744820
chr79221615992216213E0745221
chr79221627092216374E0745332
chr79221682492216874E0745886
chr79221695492217049E0746016
chr79221708592217135E0746147
chr79221714692217196E0746208
chr79221733292217399E0746394
chr79221768592217738E0746747
chr79221780592217920E0746867
chr79224158592242488E07430647
chr79224265392242942E07431715
chr79224319892243276E07432260
chr79224336292243466E07432424
chr79224353092243580E07432592
chr79224367592243715E07432737
chr79224382292244544E07432884
chr79224470292244752E07433764
chr79224492192244971E07433983
chr79224505392245127E07434115
chr79224531292245448E07434374
chr79225027892251282E07439340
chr79221780592217920E0816867
chr79221682492216874E0825886
chr79221695492217049E0826016
chr79221708592217135E0826147
chr79221714692217196E0826208
chr79221733292217399E0826394
chr79221768592217738E0826747
chr79221780592217920E0826867










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79221849192218642E0677553
chr79221874392220015E0677805
chr79222003292220548E0679094
chr79223774692237818E06726808
chr79223791592238512E06726977
chr79221849192218642E0687553
chr79221874392220015E0687805
chr79222003292220548E0689094
chr79223774692237818E06826808
chr79223791592238512E06826977
chr79221849192218642E0697553
chr79221874392220015E0697805
chr79222003292220548E0699094
chr79221849192218642E0707553
chr79221874392220015E0707805
chr79222003292220548E0709094
chr79223791592238512E07026977
chr79221849192218642E0717553
chr79221874392220015E0717805
chr79222003292220548E0719094
chr79223774692237818E07126808
chr79223791592238512E07126977
chr79221849192218642E0727553
chr79221874392220015E0727805
chr79222003292220548E0729094
chr79223774692237818E07226808
chr79223791592238512E07226977
chr79221849192218642E0737553
chr79221874392220015E0737805
chr79222003292220548E0739094
chr79223791592238512E07326977
chr79221849192218642E0747553
chr79221874392220015E0747805
chr79222003292220548E0749094
chr79223774692237818E07426808
chr79223791592238512E07426977
chr79221849192218642E0817553
chr79221874392220015E0817805
chr79222003292220548E0819094
chr79221849192218642E0827553
chr79221874392220015E0827805
chr79222003292220548E0829094
chr79223791592238512E08226977