rs10494422

Homo sapiens
A>C
PBX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0077 (2312/29978,GnomAD)
C=0073 (2126/29118,TOPMED)
C=0045 (226/5008,1000G)
C=0093 (357/3854,ALSPAC)
C=0088 (326/3708,TWINSUK)
chr1:164811778 (GRCh38.p7) (1q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.164811778A>C
GRCh37.p13 chr 1NC_000001.10:g.164781015A>C
PBX1 RefSeqGeneNG_028246.1:g.257419A>C

Gene: PBX1, pre-B-cell leukemia homeobox 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PBX1 transcript variant 2NM_001204961.1:c.N/AIntron Variant
PBX1 transcript variant 3NM_001204963.1:c.N/AIntron Variant
PBX1 transcript variant 1NM_002585.3:c.N/AIntron Variant
PBX1 transcript variant X1XM_005245228.3:c.N/AIntron Variant
PBX1 transcript variant X3XM_005245229.3:c.N/AIntron Variant
PBX1 transcript variant X2XM_011509590.1:c.N/AIntron Variant
PBX1 transcript variant X5XM_011509591.2:c.N/AIntron Variant
PBX1 transcript variant X6XM_011509592.1:c.N/AIntron Variant
PBX1 transcript variant X4XM_017001395.1:c.N/AIntron Variant
PBX1 transcript variant X7XM_017001396.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.936C=0.064
1000GenomesAmericanSub694A=0.950C=0.050
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=0.909C=0.091
1000GenomesGlobalStudy-wide5008A=0.955C=0.045
1000GenomesSouth AsianSub978A=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.907C=0.093
The Genome Aggregation DatabaseAfricanSub8722A=0.931C=0.069
The Genome Aggregation DatabaseAmericanSub838A=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1622A=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18494A=0.911C=0.088
The Genome Aggregation DatabaseGlobalStudy-wide29978A=0.922C=0.077
The Genome Aggregation DatabaseOtherSub302A=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.927C=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.912C=0.088
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
rs104944220.000509nicotine smoking19268276

eQTL of rs10494422 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 rs10494422 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 )
chr1164734322164734567E067-46448
chr1164734622164734717E067-46298
chr1164734740164735597E067-45418
chr1164735615164735700E067-45315
chr1164736626164737205E067-43810
chr1164737206164737600E067-43415
chr1164737619164737781E067-43234
chr1164739478164739678E067-41337
chr1164739715164739765E067-41250
chr1164739965164740089E067-40926
chr1164740244164741630E067-39385
chr1164749440164750603E067-30412
chr1164750684164750796E067-30219
chr1164750800164750903E067-30112
chr1164751009164751087E067-29928
chr1164751320164751478E067-29537
chr1164751506164751561E067-29454
chr1164751676164751730E067-29285
chr1164753050164753328E067-27687
chr1164753333164753762E067-27253
chr1164754834164755918E067-25097
chr1164756006164757513E067-23502
chr1164759852164759902E067-21113
chr1164766223164766276E067-14739
chr1164766289164766373E067-14642
chr1164766446164766520E067-14495
chr1164769663164769725E067-11290
chr1164770504164771005E067-10010
chr1164771051164771307E067-9708
chr1164771353164771451E067-9564
chr1164771541164771732E067-9283
chr1164771818164771893E067-9122
chr1164774700164774851E067-6164
chr1164774872164775175E067-5840
chr1164775351164775786E067-5229
chr1164775868164776052E067-4963
chr1164782883164782962E0671868
chr1164792630164792897E06711615
chr1164792940164793001E06711925
chr1164793091164793525E06712076
chr1164805831164806263E06724816
chr1164810930164811280E06729915
chr1164734322164734567E068-46448
chr1164734622164734717E068-46298
chr1164734740164735597E068-45418
chr1164735615164735700E068-45315
chr1164736230164736395E068-44620
chr1164736626164737205E068-43810
chr1164737206164737600E068-43415
chr1164737619164737781E068-43234
chr1164737846164737908E068-43107
chr1164737928164738010E068-43005
chr1164740244164741630E068-39385
chr1164743961164744896E068-36119
chr1164749440164750603E068-30412
chr1164750684164750796E068-30219
chr1164750800164750903E068-30112
chr1164751009164751087E068-29928
chr1164751320164751478E068-29537
chr1164751506164751561E068-29454
chr1164753050164753328E068-27687
chr1164753333164753762E068-27253
chr1164753869164753933E068-27082
chr1164754282164754368E068-26647
chr1164754388164754438E068-26577
chr1164754509164754638E068-26377
chr1164754834164755918E068-25097
chr1164756006164757513E068-23502
chr1164759277164759350E068-21665
chr1164759852164759902E068-21113
chr1164763590164764147E068-16868
chr1164766223164766276E068-14739
chr1164766289164766373E068-14642
chr1164766446164766520E068-14495
chr1164769663164769725E068-11290
chr1164770504164771005E068-10010
chr1164771051164771307E068-9708
chr1164771353164771451E068-9564
chr1164771541164771732E068-9283
chr1164771818164771893E068-9122
chr1164775868164776052E068-4963
chr1164782883164782962E0681868
chr1164783218164783275E0682203
chr1164792630164792897E06811615
chr1164792940164793001E06811925
chr1164793091164793525E06812076
chr1164805831164806263E06824816
chr1164810091164810580E06829076
chr1164810930164811280E06829915
chr1164811450164811552E06830435
chr1164734322164734567E069-46448
chr1164734622164734717E069-46298
chr1164734740164735597E069-45418
chr1164735615164735700E069-45315
chr1164736230164736395E069-44620
chr1164736626164737205E069-43810
chr1164737206164737600E069-43415
chr1164737619164737781E069-43234
chr1164743748164743841E069-37174
chr1164743961164744896E069-36119
chr1164749440164750603E069-30412
chr1164750684164750796E069-30219
chr1164750800164750903E069-30112
chr1164751009164751087E069-29928
chr1164751320164751478E069-29537
chr1164751506164751561E069-29454
chr1164751676164751730E069-29285
chr1164751783164752065E069-28950
chr1164753050164753328E069-27687
chr1164753333164753762E069-27253
chr1164753869164753933E069-27082
chr1164754282164754368E069-26647
chr1164754388164754438E069-26577
chr1164754509164754638E069-26377
chr1164754834164755918E069-25097
chr1164756006164757513E069-23502
chr1164759852164759902E069-21113
chr1164763590164764147E069-16868
chr1164766223164766276E069-14739
chr1164766289164766373E069-14642
chr1164766446164766520E069-14495
chr1164769663164769725E069-11290
chr1164771353164771451E069-9564
chr1164771541164771732E069-9283
chr1164771818164771893E069-9122
chr1164772236164772338E069-8677
chr1164774872164775175E069-5840
chr1164775351164775786E069-5229
chr1164783218164783275E0692203
chr1164792940164793001E06911925
chr1164793091164793525E06912076
chr1164805445164805739E06924430
chr1164805831164806263E06924816
chr1164806441164806517E06925426
chr1164810930164811280E06929915
chr1164811450164811552E06930435
chr1164825272164825451E06944257
chr1164734322164734567E070-46448
chr1164734622164734717E070-46298
chr1164734740164735597E070-45418
chr1164737206164737600E070-43415
chr1164737619164737781E070-43234
chr1164737846164737908E070-43107
chr1164739478164739678E070-41337
chr1164739715164739765E070-41250
chr1164739965164740089E070-40926
chr1164740244164741630E070-39385
chr1164743748164743841E070-37174
chr1164743961164744896E070-36119
chr1164744955164745160E070-35855
chr1164745174164745246E070-35769
chr1164745301164745367E070-35648
chr1164745591164745723E070-35292
chr1164748627164749259E070-31756
chr1164749440164750603E070-30412
chr1164750684164750796E070-30219
chr1164750800164750903E070-30112
chr1164751009164751087E070-29928
chr1164751320164751478E070-29537
chr1164751506164751561E070-29454
chr1164752587164752677E070-28338
chr1164753050164753328E070-27687
chr1164753333164753762E070-27253
chr1164753869164753933E070-27082
chr1164754282164754368E070-26647
chr1164754388164754438E070-26577
chr1164754509164754638E070-26377
chr1164754834164755918E070-25097
chr1164756006164757513E070-23502
chr1164757660164757741E070-23274
chr1164757876164757923E070-23092
chr1164758744164758788E070-22227
chr1164759277164759350E070-21665
chr1164759852164759902E070-21113
chr1164766223164766276E070-14739
chr1164766289164766373E070-14642
chr1164766446164766520E070-14495
chr1164770504164771005E070-10010
chr1164771541164771732E070-9283
chr1164771818164771893E070-9122
chr1164774700164774851E070-6164
chr1164774872164775175E070-5840
chr1164775351164775786E070-5229
chr1164775868164776052E070-4963
chr1164792630164792897E07011615
chr1164792940164793001E07011925
chr1164793091164793525E07012076
chr1164805445164805739E07024430
chr1164805831164806263E07024816
chr1164806441164806517E07025426
chr1164808062164808330E07027047
chr1164810930164811280E07029915
chr1164825272164825451E07044257
chr1164734622164734717E071-46298
chr1164737206164737600E071-43415
chr1164737619164737781E071-43234
chr1164737846164737908E071-43107
chr1164737928164738010E071-43005
chr1164743748164743841E071-37174
chr1164748627164749259E071-31756
chr1164749440164750603E071-30412
chr1164750684164750796E071-30219
chr1164750800164750903E071-30112
chr1164751009164751087E071-29928
chr1164751320164751478E071-29537
chr1164751506164751561E071-29454
chr1164751676164751730E071-29285
chr1164753050164753328E071-27687
chr1164753333164753762E071-27253
chr1164754509164754638E071-26377
chr1164754834164755918E071-25097
chr1164756006164757513E071-23502
chr1164758744164758788E071-22227
chr1164759277164759350E071-21665
chr1164759852164759902E071-21113
chr1164763590164764147E071-16868
chr1164766223164766276E071-14739
chr1164766289164766373E071-14642
chr1164766446164766520E071-14495
chr1164769024164769091E071-11924
chr1164769180164769267E071-11748
chr1164769663164769725E071-11290
chr1164770504164771005E071-10010
chr1164771051164771307E071-9708
chr1164771353164771451E071-9564
chr1164771541164771732E071-9283
chr1164771818164771893E071-9122
chr1164772236164772338E071-8677
chr1164772672164772931E071-8084
chr1164774700164774851E071-6164
chr1164774872164775175E071-5840
chr1164775351164775786E071-5229
chr1164775868164776052E071-4963
chr1164792630164792897E07111615
chr1164792940164793001E07111925
chr1164793091164793525E07112076
chr1164805445164805739E07124430
chr1164805831164806263E07124816
chr1164806441164806517E07125426
chr1164810930164811280E07129915
chr1164811450164811552E07130435
chr1164825272164825451E07144257
chr1164734322164734567E072-46448
chr1164734622164734717E072-46298
chr1164734740164735597E072-45418
chr1164737206164737600E072-43415
chr1164737619164737781E072-43234
chr1164740244164741630E072-39385
chr1164743961164744896E072-36119
chr1164749440164750603E072-30412
chr1164750684164750796E072-30219
chr1164750800164750903E072-30112
chr1164751009164751087E072-29928
chr1164751320164751478E072-29537
chr1164751506164751561E072-29454
chr1164751676164751730E072-29285
chr1164751783164752065E072-28950
chr1164753050164753328E072-27687
chr1164753333164753762E072-27253
chr1164754834164755918E072-25097
chr1164756006164757513E072-23502
chr1164759852164759902E072-21113
chr1164763590164764147E072-16868
chr1164766223164766276E072-14739
chr1164766289164766373E072-14642
chr1164766446164766520E072-14495
chr1164770504164771005E072-10010
chr1164771051164771307E072-9708
chr1164771353164771451E072-9564
chr1164771541164771732E072-9283
chr1164775868164776052E072-4963
chr1164792630164792897E07211615
chr1164792940164793001E07211925
chr1164793091164793525E07212076
chr1164805831164806263E07224816
chr1164806441164806517E07225426
chr1164810091164810580E07229076
chr1164810930164811280E07229915
chr1164824919164825203E07243904
chr1164825272164825451E07244257
chr1164734322164734567E073-46448
chr1164734622164734717E073-46298
chr1164734740164735597E073-45418
chr1164735615164735700E073-45315
chr1164735721164735894E073-45121
chr1164736230164736395E073-44620
chr1164736626164737205E073-43810
chr1164737619164737781E073-43234
chr1164737846164737908E073-43107
chr1164737928164738010E073-43005
chr1164743748164743841E073-37174
chr1164743961164744896E073-36119
chr1164744955164745160E073-35855
chr1164754834164755918E073-25097
chr1164756006164757513E073-23502
chr1164759852164759902E073-21113
chr1164766223164766276E073-14739
chr1164766289164766373E073-14642
chr1164770504164771005E073-10010
chr1164775351164775786E073-5229
chr1164775868164776052E073-4963
chr1164792630164792897E07311615
chr1164792940164793001E07311925
chr1164793091164793525E07312076
chr1164734322164734567E074-46448
chr1164734622164734717E074-46298
chr1164737619164737781E074-43234
chr1164737846164737908E074-43107
chr1164737928164738010E074-43005
chr1164740244164741630E074-39385
chr1164743748164743841E074-37174
chr1164749440164750603E074-30412
chr1164750684164750796E074-30219
chr1164750800164750903E074-30112
chr1164751009164751087E074-29928
chr1164751320164751478E074-29537
chr1164751506164751561E074-29454
chr1164751676164751730E074-29285
chr1164751783164752065E074-28950
chr1164752331164752412E074-28603
chr1164752511164752561E074-28454
chr1164752587164752677E074-28338
chr1164753050164753328E074-27687
chr1164753333164753762E074-27253
chr1164753869164753933E074-27082
chr1164754282164754368E074-26647
chr1164754388164754438E074-26577
chr1164754509164754638E074-26377
chr1164754834164755918E074-25097
chr1164756006164757513E074-23502
chr1164759277164759350E074-21665
chr1164759852164759902E074-21113
chr1164766223164766276E074-14739
chr1164766289164766373E074-14642
chr1164766446164766520E074-14495
chr1164769663164769725E074-11290
chr1164771051164771307E074-9708
chr1164771353164771451E074-9564
chr1164771541164771732E074-9283
chr1164771818164771893E074-9122
chr1164774700164774851E074-6164
chr1164774872164775175E074-5840
chr1164775351164775786E074-5229
chr1164775868164776052E074-4963
chr1164792630164792897E07411615
chr1164792940164793001E07411925
chr1164793091164793525E07412076
chr1164805445164805739E07424430
chr1164806441164806517E07425426
chr1164810930164811280E07429915
chr1164811450164811552E07430435
chr1164812331164812382E07431316
chr1164733693164733832E081-47183
chr1164734322164734567E081-46448
chr1164734622164734717E081-46298
chr1164734740164735597E081-45418
chr1164735615164735700E081-45315
chr1164735721164735894E081-45121
chr1164736230164736395E081-44620
chr1164736626164737205E081-43810
chr1164737206164737600E081-43415
chr1164737619164737781E081-43234
chr1164737846164737908E081-43107
chr1164737928164738010E081-43005
chr1164739478164739678E081-41337
chr1164739715164739765E081-41250
chr1164739965164740089E081-40926
chr1164740244164741630E081-39385
chr1164741734164742994E081-38021
chr1164744955164745160E081-35855
chr1164745174164745246E081-35769
chr1164745301164745367E081-35648
chr1164745591164745723E081-35292
chr1164745759164745836E081-35179
chr1164745908164746097E081-34918
chr1164748491164748542E081-32473
chr1164748627164749259E081-31756
chr1164749440164750603E081-30412
chr1164750684164750796E081-30219
chr1164750800164750903E081-30112
chr1164751009164751087E081-29928
chr1164751320164751478E081-29537
chr1164751506164751561E081-29454
chr1164751676164751730E081-29285
chr1164751783164752065E081-28950
chr1164752331164752412E081-28603
chr1164752511164752561E081-28454
chr1164752587164752677E081-28338
chr1164753050164753328E081-27687
chr1164753333164753762E081-27253
chr1164753869164753933E081-27082
chr1164754282164754368E081-26647
chr1164754388164754438E081-26577
chr1164754509164754638E081-26377
chr1164754834164755918E081-25097
chr1164756006164757513E081-23502
chr1164757660164757741E081-23274
chr1164757876164757923E081-23092
chr1164758744164758788E081-22227
chr1164759277164759350E081-21665
chr1164759852164759902E081-21113
chr1164761550164761664E081-19351
chr1164766223164766276E081-14739
chr1164766289164766373E081-14642
chr1164766446164766520E081-14495
chr1164769180164769267E081-11748
chr1164769663164769725E081-11290
chr1164770504164771005E081-10010
chr1164771051164771307E081-9708
chr1164771353164771451E081-9564
chr1164771541164771732E081-9283
chr1164774872164775175E081-5840
chr1164775351164775786E081-5229
chr1164775868164776052E081-4963
chr1164805445164805739E08124430
chr1164805831164806263E08124816
chr1164806441164806517E08125426
chr1164809314164809364E08128299
chr1164809519164809713E08128504
chr1164809813164809880E08128798
chr1164810091164810580E08129076
chr1164810930164811280E08129915
chr1164734322164734567E082-46448
chr1164734622164734717E082-46298
chr1164734740164735597E082-45418
chr1164735615164735700E082-45315
chr1164735721164735894E082-45121
chr1164736626164737205E082-43810
chr1164737206164737600E082-43415
chr1164737619164737781E082-43234
chr1164737846164737908E082-43107
chr1164737928164738010E082-43005
chr1164739965164740089E082-40926
chr1164740244164741630E082-39385
chr1164748172164748259E082-32756
chr1164748491164748542E082-32473
chr1164748627164749259E082-31756
chr1164749440164750603E082-30412
chr1164750684164750796E082-30219
chr1164750800164750903E082-30112
chr1164751009164751087E082-29928
chr1164751320164751478E082-29537
chr1164751506164751561E082-29454
chr1164751676164751730E082-29285
chr1164751783164752065E082-28950
chr1164752331164752412E082-28603
chr1164752511164752561E082-28454
chr1164752587164752677E082-28338
chr1164753050164753328E082-27687
chr1164753333164753762E082-27253
chr1164753869164753933E082-27082
chr1164754282164754368E082-26647
chr1164754388164754438E082-26577
chr1164754509164754638E082-26377
chr1164757660164757741E082-23274
chr1164757876164757923E082-23092
chr1164758744164758788E082-22227
chr1164770504164771005E082-10010
chr1164771353164771451E082-9564
chr1164771541164771732E082-9283
chr1164774700164774851E082-6164
chr1164774872164775175E082-5840
chr1164775351164775786E082-5229
chr1164775868164776052E082-4963
chr1164805445164805739E08224430
chr1164805831164806263E08224816
chr1164809033164809187E08228018
chr1164809314164809364E08228299
chr1164809519164809713E08228504
chr1164809813164809880E08228798
chr1164810091164810580E08229076
chr1164810930164811280E08229915