rs2273006

Homo sapiens
T>C / T>G
TAF11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0309 (9128/29532,GnomAD)
C=0362 (10556/29118,TOPMED)
C=0425 (2130/5008,1000G)
C=0152 (587/3854,ALSPAC)
C=0157 (581/3708,TWINSUK)
chr6:34883357 (GRCh38.p7) (6p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
120 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.34883357T>C
GRCh38.p7 chr 6NC_000006.12:g.34883357T>G
GRCh37.p13 chr 6NC_000006.11:g.34851134T>C
GRCh37.p13 chr 6NC_000006.11:g.34851134T>G

Gene: TAF11, TATA-box binding protein associated factor 11(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TAF11 transcript variant 2NM_001270488.1:c.N/AIntron Variant
TAF11 transcript variant 1NM_005643.3:c.N/AIntron Variant
TAF11 transcript variant X1XM_011514827.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.328C=0.672
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.420C=0.580
1000GenomesEuropeSub1006T=0.849C=0.151
1000GenomesGlobalStudy-wide5008T=0.575C=0.425
1000GenomesSouth AsianSub978T=0.670C=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.848C=0.152
The Genome Aggregation DatabaseAfricanSub8384T=0.400C=0.600
The Genome Aggregation DatabaseAmericanSub834T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1584T=0.385C=0.615
The Genome Aggregation DatabaseEuropeSub18432T=0.845C=0.154
The Genome Aggregation DatabaseGlobalStudy-wide29532T=0.690C=0.309
The Genome Aggregation DatabaseOtherSub298T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.637C=0.362
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.843C=0.157
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs22730063.2E-05alcoholism (heaviness of drinking)21529783

eQTL of rs2273006 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 rs2273006 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 )
chr64031640440316592E067-49009
chr64031670640317926E067-47675
chr64036616340366246E067562
chr64038710940387230E06721508
chr64038758340387949E06721982
chr64038804340388126E06722442
chr64038818840388310E06722587
chr64040480140404952E06839200
chr64038804340388126E06922442
chr64038818840388310E06922587
chr64039301940393315E06927418
chr64039339240393566E06927791
chr64039367640394461E06928075
chr64040451140404785E06938910
chr64040480140404952E06939200
chr64031618540316235E070-49366
chr64031640440316592E070-49009
chr64031670640317926E070-47675
chr64032435240324481E070-41120
chr64032476940324819E070-40782
chr64037748240377926E07011881
chr64037865940378986E07013058
chr64037973140379871E07014130
chr64038097640381510E07015375
chr64038710940387230E07021508
chr64038723240387425E07021631
chr64038758340387949E07021982
chr64038804340388126E07022442
chr64038818840388310E07022587
chr64039301940393315E07027418
chr64039339240393566E07027791
chr64039367640394461E07028075
chr64040451140404785E07038910
chr64040480140404952E07039200
chr64040621440407002E07040613
chr64040727640407467E07041675
chr64040797440408103E07042373
chr64031640440316592E071-49009
chr64031670640317926E071-47675
chr64039301940393315E07127418
chr64039339240393566E07127791
chr64040451140404785E07138910
chr64040480140404952E07139200
chr64031640440316592E072-49009
chr64031670640317926E072-47675
chr64037748240377926E07211881
chr64038758340387949E07221982
chr64039301940393315E07227418
chr64039339240393566E07227791
chr64040480140404952E07239200
chr64031618540316235E073-49366
chr64031640440316592E073-49009
chr64031670640317926E073-47675
chr64036616340366246E073562
chr64038695340387008E07321352
chr64038758340387949E07321982
chr64038804340388126E07322442
chr64038818840388310E07322587
chr64039301940393315E07327418
chr64039339240393566E07327791
chr64039367640394461E07328075
chr64039503940395181E07329438
chr64040480140404952E07339200
chr64040727640407467E07341675
chr64040797440408103E07342373
chr64031640440316592E074-49009
chr64040451140404785E07438910
chr64040480140404952E07439200
chr64031618540316235E081-49366
chr64031640440316592E081-49009
chr64031670640317926E081-47675
chr64036616340366246E081562
chr64037748240377926E08111881
chr64037865940378986E08113058
chr64038620840386258E08120607
chr64038634640386391E08120745
chr64038662940386686E08121028
chr64038695340387008E08121352
chr64038710940387230E08121508
chr64038723240387425E08121631
chr64038758340387949E08121982
chr64038804340388126E08122442
chr64038818840388310E08122587
chr64038974940390239E08124148
chr64039301940393315E08127418
chr64039339240393566E08127791
chr64039367640394461E08128075
chr64039503940395181E08129438
chr64039702140397118E08131420
chr64040451140404785E08138910
chr64040480140404952E08139200
chr64040621440407002E08140613
chr64040727640407467E08141675
chr64040797440408103E08142373
chr64040892040409104E08143319
chr64040927740409395E08143676
chr64031618540316235E082-49366
chr64031640440316592E082-49009
chr64031670640317926E082-47675
chr64035877440358875E082-6726
chr64035897440359132E082-6469
chr64037748240377926E08211881
chr64037865940378986E08213058
chr64037973140379871E08214130
chr64038723240387425E08221631
chr64038758340387949E08221982
chr64038804340388126E08222442
chr64038818840388310E08222587
chr64039301940393315E08227418
chr64039339240393566E08227791
chr64039367640394461E08228075
chr64039503940395181E08229438
chr64040480140404952E08239200
chr64040621440407002E08240613
chr64040727640407467E08241675
chr64040797440408103E08242373
chr64040892040409104E08243319
chr64040927740409395E08243676
chr64041054040410665E08244939
chr64041310140413185E08247500