rs7105914

Homo sapiens
T>C
ABTB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0493 (14763/29936,GnomAD)
C=0466 (13578/29118,TOPMED)
C=0476 (2383/5008,1000G)
T==0464 (1789/3854,ALSPAC)
T==0457 (1696/3708,TWINSUK)
chr11:34245136 (GRCh38.p7) (11p13)
AD
GWASdb2
1   publication(s)
See rs on genome
251 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34245136T>C
GRCh37.p13 chr 11NC_000011.9:g.34266683T>C

Gene: ABTB2, ankyrin repeat and BTB domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABTB2 transcriptNM_145804.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.635C=0.365
1000GenomesAmericanSub694T=0.610C=0.390
1000GenomesEast AsianSub1008T=0.450C=0.550
1000GenomesEuropeSub1006T=0.451C=0.549
1000GenomesGlobalStudy-wide5008T=0.524C=0.476
1000GenomesSouth AsianSub978T=0.460C=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.464C=0.536
The Genome Aggregation DatabaseAfricanSub8712T=0.595C=0.405
The Genome Aggregation DatabaseAmericanSub836T=0.590C=0.410
The Genome Aggregation DatabaseEast AsianSub1618T=0.456C=0.544
The Genome Aggregation DatabaseEuropeSub18468T=0.465C=0.534
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.506C=0.493
The Genome Aggregation DatabaseOtherSub302T=0.520C=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.533C=0.466
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.457C=0.543
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs71059140.000233alcohol consumption (maxi-drinks)24277619

eQTL of rs7105914 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 rs7105914 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 )
chr113422798134228991E067-37692
chr113424458434244913E067-21770
chr113424492634245533E067-21150
chr113424604334246134E067-20549
chr113424619334246453E067-20230
chr113425701234257475E067-9208
chr113425753634257687E067-8996
chr113428237634282458E06715693
chr113428333234283655E06716649
chr113428367534283725E06716992
chr113428391334285699E06717230
chr113428572334286397E06719040
chr113428645434286522E06719771
chr113428674134286830E06720058
chr113428769134287913E06721008
chr113428792834289027E06721245
chr113429607734297021E06729394
chr113431258934312790E06745906
chr113431580234315933E06749119
chr113431605034316129E06749367
chr113424421534244312E068-22371
chr113424431434244509E068-22174
chr113424604334246134E068-20549
chr113425678834256994E068-9689
chr113425701234257475E068-9208
chr113425753634257687E068-8996
chr113427353634273898E0686853
chr113427952234279572E06812839
chr113428067234280948E06813989
chr113428237634282458E06815693
chr113428285534282914E06816172
chr113428309934283149E06816416
chr113428391334285699E06817230
chr113428572334286397E06819040
chr113428645434286522E06819771
chr113428674134286830E06820058
chr113428769134287913E06821008
chr113428792834289027E06821245
chr113429575334296038E06829070
chr113429607734297021E06829394
chr113431258934312790E06845906
chr113423145734231703E069-34980
chr113424431434244509E069-22174
chr113424458434244913E069-21770
chr113424492634245533E069-21150
chr113424604334246134E069-20549
chr113424619334246453E069-20230
chr113427247034273512E0695787
chr113427353634273898E0696853
chr113427393334274114E0697250
chr113427783434278509E06911151
chr113427861734278747E06911934
chr113427888434279030E06912201
chr113428285534282914E06916172
chr113428309934283149E06916416
chr113428333234283655E06916649
chr113428367534283725E06916992
chr113428391334285699E06917230
chr113428572334286397E06919040
chr113428645434286522E06919771
chr113428674134286830E06920058
chr113428769134287913E06921008
chr113428792834289027E06921245
chr113428908534289334E06922402
chr113429575334296038E06929070
chr113429607734297021E06929394
chr113422624334227112E070-39571
chr113422722934227541E070-39142
chr113422798134228991E070-37692
chr113424492634245533E070-21150
chr113426123934261328E070-5355
chr113426142134261571E070-5112
chr113426177834261947E070-4736
chr113426198734262072E070-4611
chr113426639734266591E070-92
chr113426671034266845E07027
chr113427247034273512E0705787
chr113427353634273898E0706853
chr113427393334274114E0707250
chr113428067234280948E07013989
chr113428167834281846E07014995
chr113428237634282458E07015693
chr113428285534282914E07016172
chr113428309934283149E07016416
chr113428333234283655E07016649
chr113428367534283725E07016992
chr113428391334285699E07017230
chr113428769134287913E07021008
chr113428792834289027E07021245
chr113428908534289334E07022402
chr113429575334296038E07029070
chr113429607734297021E07029394
chr113430629334306812E07039610
chr113430706534307334E07040382
chr113431108334311133E07044400
chr113421680234216856E071-49827
chr113422264834222747E071-43936
chr113422798134228991E071-37692
chr113422908434229172E071-37511
chr113422922734229298E071-37385
chr113422947934229701E071-36982
chr113422971134229775E071-36908
chr113422992034229997E071-36686
chr113423145734231703E071-34980
chr113423209234232142E071-34541
chr113423225434232304E071-34379
chr113424431434244509E071-22174
chr113424458434244913E071-21770
chr113424492634245533E071-21150
chr113424604334246134E071-20549
chr113424619334246453E071-20230
chr113424669234247005E071-19678
chr113425701234257475E071-9208
chr113425753634257687E071-8996
chr113426489234266290E071-393
chr113427153234271582E0714849
chr113427164234271807E0714959
chr113427181234271885E0715129
chr113427192034271995E0715237
chr113427233434272416E0715651
chr113427353634273898E0716853
chr113427393334274114E0717250
chr113427783434278509E07111151
chr113427861734278747E07111934
chr113427888434279030E07112201
chr113428167834281846E07114995
chr113428237634282458E07115693
chr113428285534282914E07116172
chr113428309934283149E07116416
chr113428333234283655E07116649
chr113428367534283725E07116992
chr113428391334285699E07117230
chr113428572334286397E07119040
chr113428645434286522E07119771
chr113428674134286830E07120058
chr113428769134287913E07121008
chr113428908534289334E07122402
chr113428983634290127E07123153
chr113429333634293478E07126653
chr113429503734295231E07128354
chr113429575334296038E07129070
chr113429607734297021E07129394
chr113430029934300528E07133616
chr113431123834311282E07144555
chr113431134234311392E07144659
chr113431258934312790E07145906
chr113431580234315933E07149119
chr113431605034316129E07149367
chr113422798134228991E072-37692
chr113422908434229172E072-37511
chr113422922734229298E072-37385
chr113424431434244509E072-22174
chr113424458434244913E072-21770
chr113424492634245533E072-21150
chr113424604334246134E072-20549
chr113424619334246453E072-20230
chr113425701234257475E072-9208
chr113427233434272416E0725651
chr113427247034273512E0725787
chr113427353634273898E0726853
chr113427393334274114E0727250
chr113428391334285699E07217230
chr113428572334286397E07219040
chr113428645434286522E07219771
chr113428674134286830E07220058
chr113428769134287913E07221008
chr113428792834289027E07221245
chr113429607734297021E07229394
chr113429707334297295E07230390
chr113431580234315933E07249119
chr113431605034316129E07249367
chr113424431434244509E073-22174
chr113424458434244913E073-21770
chr113424492634245533E073-21150
chr113424604334246134E073-20549
chr113427247034273512E0735787
chr113427353634273898E0736853
chr113427393334274114E0737250
chr113428391334285699E07317230
chr113428572334286397E07319040
chr113428645434286522E07319771
chr113428674134286830E07320058
chr113428769134287913E07321008
chr113428792834289027E07321245
chr113429575334296038E07329070
chr113429607734297021E07329394
chr113429707334297295E07330390
chr113431605034316129E07349367
chr113422722934227541E074-39142
chr113422798134228991E074-37692
chr113422908434229172E074-37511
chr113422922734229298E074-37385
chr113422947934229701E074-36982
chr113422971134229775E074-36908
chr113422992034229997E074-36686
chr113423145734231703E074-34980
chr113423209234232142E074-34541
chr113423225434232304E074-34379
chr113424431434244509E074-22174
chr113424458434244913E074-21770
chr113424492634245533E074-21150
chr113424604334246134E074-20549
chr113424619334246453E074-20230
chr113425701234257475E074-9208
chr113425753634257687E074-8996
chr113425774434257798E074-8885
chr113426489234266290E074-393
chr113426639734266591E074-92
chr113427233434272416E0745651
chr113427247034273512E0745787
chr113427353634273898E0746853
chr113427393334274114E0747250
chr113427422734274584E0747544
chr113427474034274790E0748057
chr113427783434278509E07411151
chr113427861734278747E07411934
chr113427888434279030E07412201
chr113428167834281846E07414995
chr113428237634282458E07415693
chr113428285534282914E07416172
chr113428309934283149E07416416
chr113428333234283655E07416649
chr113428391334285699E07417230
chr113428572334286397E07419040
chr113428645434286522E07419771
chr113428674134286830E07420058
chr113428769134287913E07421008
chr113428792834289027E07421245
chr113428908534289334E07422402
chr113429575334296038E07429070
chr113429607734297021E07429394
chr113430029934300528E07433616
chr113431258934312790E07445906
chr113431580234315933E07449119
chr113431605034316129E07449367
chr113422798134228991E081-37692
chr113428391334285699E08117230
chr113428769134287913E08121008
chr113428792834289027E08121245
chr113428908534289334E08122402
chr113429607734297021E08129394
chr113430629334306812E08139610
chr113430706534307334E08140382
chr113427353634273898E0826853
chr113427393334274114E0827250
chr113428769134287913E08221008
chr113428792834289027E08221245
chr113428908534289334E08222402
chr113430629334306812E08239610
chr113430706534307334E08240382
chr113431258934312790E08245906