rs2473918

Homo sapiens
T>C
ABTB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0451 (13467/29852,GnomAD)
C=0438 (12760/29118,TOPMED)
T==0446 (2235/5008,1000G)
C=0438 (1688/3854,ALSPAC)
C=0434 (1609/3708,TWINSUK)
chr11:34169406 (GRCh38.p7) (11p13)
ND
GWASdb2
1   publication(s)
See rs on genome
289 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34169406T>C
GRCh37.p13 chr 11NC_000011.9:g.34190953T>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=0.657C=0.343
1000GenomesAmericanSub694T=0.420C=0.580
1000GenomesEast AsianSub1008T=0.116C=0.884
1000GenomesEuropeSub1006T=0.552C=0.448
1000GenomesGlobalStudy-wide5008T=0.446C=0.554
1000GenomesSouth AsianSub978T=0.410C=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.562C=0.438
The Genome Aggregation DatabaseAfricanSub8670T=0.632C=0.368
The Genome Aggregation DatabaseAmericanSub834T=0.430C=0.570
The Genome Aggregation DatabaseEast AsianSub1616T=0.082C=0.918
The Genome Aggregation DatabaseEuropeSub18430T=0.556C=0.443
The Genome Aggregation DatabaseGlobalStudy-wide29852T=0.548C=0.451
The Genome Aggregation DatabaseOtherSub302T=0.490C=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.561C=0.438
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.566C=0.434
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs24739180.000924nicotine smoking19268276

eQTL of rs2473918 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 rs2473918 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 )
chr113417729334177589E067-13364
chr113417771834177823E067-13130
chr113417794334178015E067-12938
chr113419546534195657E0674512
chr113420075234201043E0679799
chr113420128834201338E06710335
chr113420163834202215E06710685
chr113420247134203214E06711518
chr113420326534203305E06712312
chr113420368434203764E06712731
chr113420756034207708E06716607
chr113420776834208588E06716815
chr113421325434213480E06722301
chr113421350634213566E06722553
chr113421374934213803E06722796
chr113421383834213888E06722885
chr113422798134228991E06737028
chr113417706934177205E068-13748
chr113417729334177589E068-13364
chr113417771834177823E068-13130
chr113419546534195657E0684512
chr113419788034198103E0686927
chr113419810734198420E0687154
chr113419844934198561E0687496
chr113419861134198809E0687658
chr113419907634199173E0688123
chr113419943834199562E0688485
chr113419994434200058E0688991
chr113420015234200281E0689199
chr113420038134200431E0689428
chr113420075234201043E0689799
chr113420128834201338E06810335
chr113420163834202215E06810685
chr113420222234202352E06811269
chr113420235334202403E06811400
chr113420247134203214E06811518
chr113420326534203305E06812312
chr113420368434203764E06812731
chr113420756034207708E06816607
chr113420776834208588E06816815
chr113421325434213480E06822301
chr113421350634213566E06822553
chr113421374934213803E06822796
chr113421383834213888E06822885
chr113421404134215051E06823088
chr113417706934177205E069-13748
chr113417729334177589E069-13364
chr113419788034198103E0696927
chr113419810734198420E0697154
chr113419844934198561E0697496
chr113419861134198809E0697658
chr113419907634199173E0698123
chr113419943834199562E0698485
chr113419994434200058E0698991
chr113420015234200281E0699199
chr113420038134200431E0699428
chr113420075234201043E0699799
chr113420128834201338E06910335
chr113420163834202215E06910685
chr113420222234202352E06911269
chr113420235334202403E06911400
chr113420247134203214E06911518
chr113420326534203305E06912312
chr113420368434203764E06912731
chr113420756034207708E06916607
chr113420776834208588E06916815
chr113421317834213228E06922225
chr113421325434213480E06922301
chr113421350634213566E06922553
chr113421374934213803E06922796
chr113421383834213888E06922885
chr113421404134215051E06923088
chr113421514934215281E06924196
chr113421539134215543E06924438
chr113421559534215805E06924642
chr113421589534216090E06924942
chr113423145734231703E06940504
chr113418744734188169E070-2784
chr113419522434195387E0704271
chr113419788034198103E0706927
chr113419810734198420E0707154
chr113419844934198561E0707496
chr113419861134198809E0707658
chr113419907634199173E0708123
chr113419943834199562E0708485
chr113420594834206106E07014995
chr113420615734206207E07015204
chr113420623834206309E07015285
chr113420645834206571E07015505
chr113420660834206658E07015655
chr113420696834207272E07016015
chr113420870534208755E07017752
chr113421023934210454E07019286
chr113421045934210518E07019506
chr113421058734210723E07019634
chr113421374934213803E07022796
chr113421383834213888E07022885
chr113421404134215051E07023088
chr113421514934215281E07024196
chr113421539134215543E07024438
chr113421559534215805E07024642
chr113421589534216090E07024942
chr113421610434216296E07025151
chr113422624334227112E07035290
chr113422722934227541E07036276
chr113422798134228991E07037028
chr113417660634177034E071-13919
chr113417706934177205E071-13748
chr113417729334177589E071-13364
chr113417771834177823E071-13130
chr113419788034198103E0716927
chr113419810734198420E0717154
chr113419844934198561E0717496
chr113419861134198809E0717658
chr113419907634199173E0718123
chr113419943834199562E0718485
chr113419994434200058E0718991
chr113420015234200281E0719199
chr113420038134200431E0719428
chr113420075234201043E0719799
chr113420128834201338E07110335
chr113420163834202215E07110685
chr113420222234202352E07111269
chr113420235334202403E07111400
chr113420247134203214E07111518
chr113420326534203305E07112312
chr113420368434203764E07112731
chr113420425734204317E07113304
chr113420513634205180E07114183
chr113420518934205239E07114236
chr113420594834206106E07114995
chr113420615734206207E07115204
chr113420623834206309E07115285
chr113420645834206571E07115505
chr113420660834206658E07115655
chr113420696834207272E07116015
chr113420756034207708E07116607
chr113420776834208588E07116815
chr113420870534208755E07117752
chr113421325434213480E07122301
chr113421350634213566E07122553
chr113421374934213803E07122796
chr113421383834213888E07122885
chr113421404134215051E07123088
chr113421514934215281E07124196
chr113421539134215543E07124438
chr113421680234216856E07125849
chr113422264834222747E07131695
chr113422798134228991E07137028
chr113422908434229172E07138131
chr113422922734229298E07138274
chr113422947934229701E07138526
chr113422971134229775E07138758
chr113422992034229997E07138967
chr113423145734231703E07140504
chr113423209234232142E07141139
chr113423225434232304E07141301
chr113417660634177034E072-13919
chr113417706934177205E072-13748
chr113417729334177589E072-13364
chr113417771834177823E072-13130
chr113417794334178015E072-12938
chr113419546534195657E0724512
chr113419861134198809E0727658
chr113419907634199173E0728123
chr113419943834199562E0728485
chr113419994434200058E0728991
chr113420015234200281E0729199
chr113420163834202215E07210685
chr113420222234202352E07211269
chr113420235334202403E07211400
chr113420247134203214E07211518
chr113420326534203305E07212312
chr113420368434203764E07212731
chr113420513634205180E07214183
chr113420518934205239E07214236
chr113420594834206106E07214995
chr113420615734206207E07215204
chr113420623834206309E07215285
chr113420756034207708E07216607
chr113420776834208588E07216815
chr113421317834213228E07222225
chr113421325434213480E07222301
chr113421350634213566E07222553
chr113421374934213803E07222796
chr113421383834213888E07222885
chr113421404134215051E07223088
chr113422798134228991E07237028
chr113422908434229172E07238131
chr113422922734229298E07238274
chr113417660634177034E073-13919
chr113417706934177205E073-13748
chr113417729334177589E073-13364
chr113417875434178820E073-12133
chr113417883334178913E073-12040
chr113417906434179139E073-11814
chr113419788034198103E0736927
chr113419810734198420E0737154
chr113419844934198561E0737496
chr113419861134198809E0737658
chr113420075234201043E0739799
chr113420128834201338E07310335
chr113420163834202215E07310685
chr113420222234202352E07311269
chr113420235334202403E07311400
chr113420247134203214E07311518
chr113420326534203305E07312312
chr113420513634205180E07314183
chr113420518934205239E07314236
chr113420594834206106E07314995
chr113420615734206207E07315204
chr113420756034207708E07316607
chr113420776834208588E07316815
chr113421325434213480E07322301
chr113421350634213566E07322553
chr113421374934213803E07322796
chr113421383834213888E07322885
chr113421404134215051E07323088
chr113417660634177034E074-13919
chr113417706934177205E074-13748
chr113417729334177589E074-13364
chr113417771834177823E074-13130
chr113418744734188169E074-2784
chr113418819634188259E074-2694
chr113419522434195387E0744271
chr113419788034198103E0746927
chr113419810734198420E0747154
chr113419844934198561E0747496
chr113419861134198809E0747658
chr113419907634199173E0748123
chr113419943834199562E0748485
chr113419994434200058E0748991
chr113420015234200281E0749199
chr113420038134200431E0749428
chr113420075234201043E0749799
chr113420128834201338E07410335
chr113420163834202215E07410685
chr113420222234202352E07411269
chr113420235334202403E07411400
chr113420247134203214E07411518
chr113420326534203305E07412312
chr113420368434203764E07412731
chr113420756034207708E07416607
chr113420776834208588E07416815
chr113420870534208755E07417752
chr113421023934210454E07419286
chr113421045934210518E07419506
chr113421058734210723E07419634
chr113421292134213047E07421968
chr113421317834213228E07422225
chr113421325434213480E07422301
chr113421350634213566E07422553
chr113421374934213803E07422796
chr113421383834213888E07422885
chr113421404134215051E07423088
chr113421514934215281E07424196
chr113422722934227541E07436276
chr113422798134228991E07437028
chr113422908434229172E07438131
chr113422922734229298E07438274
chr113422947934229701E07438526
chr113422971134229775E07438758
chr113422992034229997E07438967
chr113423145734231703E07440504
chr113423209234232142E07441139
chr113423225434232304E07441301
chr113419546534195657E0814512
chr113420368434203764E08112731
chr113420696834207272E08116015
chr113420756034207708E08116607
chr113420776834208588E08116815
chr113420870534208755E08117752
chr113420881634208876E08117863
chr113420966534210191E08118712
chr113421023934210454E08119286
chr113421045934210518E08119506
chr113421058734210723E08119634
chr113422798134228991E08137028
chr113420594834206106E08214995
chr113420615734206207E08215204
chr113420623834206309E08215285
chr113420966534210191E08218712
chr113421023934210454E08219286
chr113421045934210518E08219506
chr113421058734210723E08219634
chr113421087934210992E08219926
chr113421404134215051E08223088
chr113421514934215281E08224196
chr113421539134215543E08224438