rs549427

Homo sapiens
G>A
ZBTB16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0067 (2023/29950,GnomAD)
A=0037 (1105/29118,TOPMED)
A=0025 (126/5008,1000G)
A=0078 (300/3854,ALSPAC)
A=0075 (279/3708,TWINSUK)
chr11:114214137 (GRCh38.p7) (11q23.2)
ND
GWASdb2
2   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.114214137G>A
GRCh37.p13 chr 11NC_000011.9:g.114084859G>A
ZBTB16 RefSeqGeneNG_012140.1:g.159429G>A

Gene: ZBTB16, zinc finger and BTB domain containing 16(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ZBTB16 transcript variant 2NM_001018011.1:c.N/AIntron Variant
ZBTB16 transcript variant 1NM_006006.4:c.N/AIntron Variant
ZBTB16 transcript variant X1XM_017018257.1:c.N/AIntron Variant
ZBTB16 transcript variant X2XM_017018258.1:c.N/AIntron Variant
ZBTB16 transcript variant X1XM_017018259.1:c.N/AIntron Variant
ZBTB16 transcript variant X4XM_005271658.4:c.N/AGenic Downstream Transcript Variant
ZBTB16 transcript variant X4XR_001747955.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.998A=0.002
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.920A=0.080
1000GenomesGlobalStudy-wide5008G=0.975A=0.025
1000GenomesSouth AsianSub978G=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.922A=0.078
The Genome Aggregation DatabaseAfricanSub8716G=0.987A=0.013
The Genome Aggregation DatabaseAmericanSub836G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1618G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18478G=0.897A=0.102
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.932A=0.067
The Genome Aggregation DatabaseOtherSub302G=0.970A=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.962A=0.037
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.925A=0.075
PMID Title Author Journal
18535201A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.Cooper GMBlood
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs5494270.000388nicotine smoking19268276

eQTL of rs549427 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 rs549427 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 )
chr11114035418114035458E067-49401
chr11114035466114035552E067-49307
chr11114035626114035670E067-49189
chr11114035683114035752E067-49107
chr11114035848114036084E067-48775
chr11114036103114036926E067-47933
chr11114036970114038513E067-46346
chr11114038515114040853E067-44006
chr11114040928114041429E067-43430
chr11114041445114041577E067-43282
chr11114041638114041878E067-42981
chr11114041879114042802E067-42057
chr11114042807114045449E067-39410
chr11114045478114045574E067-39285
chr11114045576114045645E067-39214
chr11114045653114046098E067-38761
chr11114046398114046651E067-38208
chr11114046709114046865E067-37994
chr11114046908114047569E067-37290
chr11114047653114047840E067-37019
chr11114047866114048021E067-36838
chr11114048047114048096E067-36763
chr11114048319114048543E067-36316
chr11114048737114048787E067-36072
chr11114048819114049020E067-35839
chr11114049040114049177E067-35682
chr11114049193114052507E067-32352
chr11114052601114052689E067-32170
chr11114052747114053026E067-31833
chr11114053154114053213E067-31646
chr11114053284114054852E067-30007
chr11114055401114055587E067-29272
chr11114055604114055680E067-29179
chr11114057678114057745E067-27114
chr11114057757114058584E067-26275
chr11114063412114063506E067-21353
chr11114063526114063985E067-20874
chr11114064492114065987E067-18872
chr11114066086114066452E067-18407
chr11114066458114066508E067-18351
chr11114066515114066752E067-18107
chr11114066764114066838E067-18021
chr11114066850114067001E067-17858
chr11114067014114067069E067-17790
chr11114067086114067485E067-17374
chr11114067550114068439E067-16420
chr11114068474114069249E067-15610
chr11114069267114069690E067-15169
chr11114069739114069853E067-15006
chr11114070003114070095E067-14764
chr11114070184114070240E067-14619
chr11114070258114070483E067-14376
chr11114071086114071722E067-13137
chr11114071776114071849E067-13010
chr11114071899114072133E067-12726
chr11114072219114072320E067-12539
chr11114072369114072413E067-12446
chr11114072499114072662E067-12197
chr11114072702114072783E067-12076
chr11114072794114073201E067-11658
chr11114073490114073588E067-11271
chr11114073601114073722E067-11137
chr11114073754114073816E067-11043
chr11114074230114074270E067-10589
chr11114074403114074495E067-10364
chr11114074521114074575E067-10284
chr11114074739114074816E067-10043
chr11114077293114077343E067-7516
chr11114077509114077556E067-7303
chr11114077595114078283E067-6576
chr11114082126114082900E067-1959
chr11114082956114083154E067-1705
chr11114085747114087317E067888
chr11114087350114088025E0672491
chr11114088131114088283E0673272
chr11114088321114088361E0673462
chr11114088483114088533E0673624
chr11114088601114088764E0673742
chr11114088833114088958E0673974
chr11114089011114089083E0674152
chr11114089096114089521E0674237
chr11114089652114089989E0674793
chr11114090110114090234E0675251
chr11114090255114091199E0675396
chr11114091269114091506E0676410
chr11114091545114091599E0676686
chr11114091612114091666E0676753
chr11114091799114091856E0676940
chr11114091988114092037E0677129
chr11114095617114095722E06710758
chr11114098264114098409E06713405
chr11114098998114099048E06714139
chr11114099162114099311E06714303
chr11114099352114099410E06714493
chr11114099428114100339E06714569
chr11114100515114100575E06715656
chr11114100794114100844E06715935
chr11114100921114100969E06716062
chr11114100972114101091E06716113
chr11114101108114101283E06716249
chr11114101599114101653E06716740
chr11114101673114101760E06716814
chr11114101962114102037E06717103
chr11114102133114102183E06717274
chr11114102196114102373E06717337
chr11114102392114102447E06717533
chr11114102585114102639E06717726
chr11114102804114103036E06717945
chr11114103194114103845E06718335
chr11114103853114104409E06718994
chr11114104491114104853E06719632
chr11114105007114105283E06720148
chr11114105737114105787E06720878
chr11114105988114106152E06721129
chr11114106941114107050E06722082
chr11114107166114107227E06722307
chr11114107339114107930E06722480
chr11114109682114109742E06724823
chr11114110032114110129E06725173
chr11114110285114110454E06725426
chr11114110535114110648E06725676
chr11114110760114110915E06725901
chr11114114005114114231E06729146
chr11114114369114115319E06729510
chr11114115584114115655E06730725
chr11114115779114115907E06730920
chr11114116054114116193E06731195
chr11114116235114116279E06731376
chr11114116378114116428E06731519
chr11114121761114122150E06736902
chr11114122161114123140E06737302
chr11114126967114128136E06742108
chr11114128213114129467E06743354
chr11114129483114130300E06744624
chr11114130323114130998E06745464
chr11114131001114132048E06746142
chr11114035848114036084E068-48775
chr11114036103114036926E068-47933
chr11114036970114038513E068-46346
chr11114038515114040853E068-44006
chr11114040928114041429E068-43430
chr11114041445114041577E068-43282
chr11114041638114041878E068-42981
chr11114041879114042802E068-42057
chr11114042807114045449E068-39410
chr11114045478114045574E068-39285
chr11114045576114045645E068-39214
chr11114045653114046098E068-38761
chr11114046398114046651E068-38208
chr11114046709114046865E068-37994
chr11114046908114047569E068-37290
chr11114047653114047840E068-37019
chr11114047866114048021E068-36838
chr11114048047114048096E068-36763
chr11114048319114048543E068-36316
chr11114048737114048787E068-36072
chr11114048819114049020E068-35839
chr11114049040114049177E068-35682
chr11114049193114052507E068-32352
chr11114052601114052689E068-32170
chr11114052747114053026E068-31833
chr11114053154114053213E068-31646
chr11114053284114054852E068-30007
chr11114066086114066452E068-18407
chr11114066458114066508E068-18351
chr11114066515114066752E068-18107
chr11114066764114066838E068-18021
chr11114066850114067001E068-17858
chr11114067014114067069E068-17790
chr11114067086114067485E068-17374
chr11114067550114068439E068-16420
chr11114068474114069249E068-15610
chr11114069267114069690E068-15169
chr11114069739114069853E068-15006
chr11114070003114070095E068-14764
chr11114070184114070240E068-14619
chr11114070258114070483E068-14376
chr11114071086114071722E068-13137
chr11114071776114071849E068-13010
chr11114071899114072133E068-12726
chr11114072219114072320E068-12539
chr11114072369114072413E068-12446
chr11114072499114072662E068-12197
chr11114072702114072783E068-12076
chr11114081902114082046E068-2813
chr11114082126114082900E068-1959
chr11114085747114087317E068888
chr11114087350114088025E0682491
chr11114088131114088283E0683272
chr11114088321114088361E0683462
chr11114088483114088533E0683624
chr11114088601114088764E0683742
chr11114088833114088958E0683974
chr11114089011114089083E0684152
chr11114089096114089521E0684237
chr11114089652114089989E0684793
chr11114090110114090234E0685251
chr11114090255114091199E0685396
chr11114091269114091506E0686410
chr11114091545114091599E0686686
chr11114091612114091666E0686753
chr11114091799114091856E0686940
chr11114091988114092037E0687129
chr11114092195114092243E0687336
chr11114092284114092359E0687425
chr11114092469114092521E0687610
chr11114095617114095722E06810758
chr11114096040114096105E06811181
chr11114096259114096309E06811400
chr11114098998114099048E06814139
chr11114099162114099311E06814303
chr11114099352114099410E06814493
chr11114099428114100339E06814569
chr11114100515114100575E06815656
chr11114100794114100844E06815935
chr11114100921114100969E06816062
chr11114100972114101091E06816113
chr11114101108114101283E06816249
chr11114101599114101653E06816740
chr11114101673114101760E06816814
chr11114101962114102037E06817103
chr11114102133114102183E06817274
chr11114102196114102373E06817337
chr11114102392114102447E06817533
chr11114102585114102639E06817726
chr11114102804114103036E06817945
chr11114103194114103845E06818335
chr11114103853114104409E06818994
chr11114104491114104853E06819632
chr11114105007114105283E06820148
chr11114113780114113824E06828921
chr11114114005114114231E06829146
chr11114114369114115319E06829510
chr11114128213114129467E06843354
chr11114129483114130300E06844624
chr11114131001114132048E06846142
chr11114035418114035458E069-49401
chr11114035466114035552E069-49307
chr11114035626114035670E069-49189
chr11114035683114035752E069-49107
chr11114035848114036084E069-48775
chr11114036103114036926E069-47933
chr11114036970114038513E069-46346
chr11114038515114040853E069-44006
chr11114040928114041429E069-43430
chr11114041445114041577E069-43282
chr11114041638114041878E069-42981
chr11114041879114042802E069-42057
chr11114042807114045449E069-39410
chr11114045478114045574E069-39285
chr11114045576114045645E069-39214
chr11114045653114046098E069-38761
chr11114046398114046651E069-38208
chr11114046709114046865E069-37994
chr11114046908114047569E069-37290
chr11114047653114047840E069-37019
chr11114047866114048021E069-36838
chr11114048047114048096E069-36763
chr11114048319114048543E069-36316
chr11114048737114048787E069-36072
chr11114048819114049020E069-35839
chr11114049040114049177E069-35682
chr11114049193114052507E069-32352
chr11114052601114052689E069-32170
chr11114052747114053026E069-31833
chr11114053154114053213E069-31646
chr11114053284114054852E069-30007
chr11114063526114063985E069-20874
chr11114064023114064318E069-20541
chr11114064492114065987E069-18872
chr11114066086114066452E069-18407
chr11114066458114066508E069-18351
chr11114066515114066752E069-18107
chr11114066764114066838E069-18021
chr11114066850114067001E069-17858
chr11114067014114067069E069-17790
chr11114067086114067485E069-17374
chr11114067550114068439E069-16420
chr11114068474114069249E069-15610
chr11114069267114069690E069-15169
chr11114069739114069853E069-15006
chr11114070003114070095E069-14764
chr11114070184114070240E069-14619
chr11114070258114070483E069-14376
chr11114071086114071722E069-13137
chr11114071776114071849E069-13010
chr11114071899114072133E069-12726
chr11114072219114072320E069-12539
chr11114082126114082900E069-1959
chr11114082956114083154E069-1705
chr11114083219114083592E069-1267
chr11114083686114083843E069-1016
chr11114083899114084717E069-142
chr11114085747114087317E069888
chr11114087350114088025E0692491
chr11114088131114088283E0693272
chr11114088321114088361E0693462
chr11114088483114088533E0693624
chr11114088601114088764E0693742
chr11114088833114088958E0693974
chr11114089011114089083E0694152
chr11114089096114089521E0694237
chr11114089652114089989E0694793
chr11114090110114090234E0695251
chr11114090255114091199E0695396
chr11114091269114091506E0696410
chr11114091545114091599E0696686
chr11114091612114091666E0696753
chr11114091799114091856E0696940
chr11114091988114092037E0697129
chr11114092195114092243E0697336
chr11114096933114096999E06912074
chr11114098998114099048E06914139
chr11114099162114099311E06914303
chr11114099352114099410E06914493
chr11114099428114100339E06914569
chr11114100515114100575E06915656
chr11114100794114100844E06915935
chr11114100921114100969E06916062
chr11114100972114101091E06916113
chr11114101108114101283E06916249
chr11114102392114102447E06917533
chr11114102585114102639E06917726
chr11114102804114103036E06917945
chr11114103194114103845E06918335
chr11114103853114104409E06918994
chr11114104491114104853E06919632
chr11114105737114105787E06920878
chr11114105988114106152E06921129
chr11114107339114107930E06922480
chr11114108006114108167E06923147
chr11114108704114108849E06923845
chr11114108927114109103E06924068
chr11114109168114109212E06924309
chr11114110032114110129E06925173
chr11114112971114113161E06928112
chr11114113204114113254E06928345
chr11114113314114113435E06928455
chr11114113499114113584E06928640
chr11114113780114113824E06928921
chr11114114005114114231E06929146
chr11114114369114115319E06929510
chr11114115584114115655E06930725
chr11114115779114115907E06930920
chr11114116054114116193E06931195
chr11114116235114116279E06931376
chr11114128213114129467E06943354
chr11114129483114130300E06944624
chr11114131001114132048E06946142
chr11114035418114035458E070-49401
chr11114035466114035552E070-49307
chr11114035626114035670E070-49189
chr11114035683114035752E070-49107
chr11114035848114036084E070-48775
chr11114036103114036926E070-47933
chr11114036970114038513E070-46346
chr11114038515114040853E070-44006
chr11114040928114041429E070-43430
chr11114041445114041577E070-43282
chr11114041638114041878E070-42981
chr11114041879114042802E070-42057
chr11114042807114045449E070-39410
chr11114045478114045574E070-39285
chr11114045576114045645E070-39214
chr11114045653114046098E070-38761
chr11114046398114046651E070-38208
chr11114046709114046865E070-37994
chr11114048819114049020E070-35839
chr11114049040114049177E070-35682
chr11114049193114052507E070-32352
chr11114052601114052689E070-32170
chr11114052747114053026E070-31833
chr11114053154114053213E070-31646
chr11114053284114054852E070-30007
chr11114064492114065987E070-18872
chr11114066086114066452E070-18407
chr11114067550114068439E070-16420
chr11114068474114069249E070-15610
chr11114071086114071722E070-13137
chr11114071776114071849E070-13010
chr11114071899114072133E070-12726
chr11114072219114072320E070-12539
chr11114072369114072413E070-12446
chr11114074403114074495E070-10364
chr11114074521114074575E070-10284
chr11114098998114099048E07014139
chr11114099162114099311E07014303
chr11114099428114100339E07014569
chr11114100515114100575E07015656
chr11114100794114100844E07015935
chr11114100921114100969E07016062
chr11114100972114101091E07016113
chr11114101108114101283E07016249
chr11114101599114101653E07016740
chr11114101673114101760E07016814
chr11114101962114102037E07017103
chr11114102133114102183E07017274
chr11114102196114102373E07017337
chr11114102392114102447E07017533
chr11114102585114102639E07017726
chr11114102804114103036E07017945
chr11114103853114104409E07018994
chr11114104491114104853E07019632
chr11114105007114105283E07020148
chr11114107339114107930E07022480
chr11114108006114108167E07023147
chr11114108246114108326E07023387
chr11114108346114108445E07023487
chr11114108704114108849E07023845
chr11114109682114109742E07024823
chr11114110032114110129E07025173
chr11114110285114110454E07025426
chr11114111567114111624E07026708
chr11114111669114111831E07026810
chr11114111848114111909E07026989
chr11114112689114112790E07027830
chr11114112971114113161E07028112
chr11114113204114113254E07028345
chr11114113314114113435E07028455
chr11114113499114113584E07028640
chr11114113780114113824E07028921
chr11114114005114114231E07029146
chr11114114369114115319E07029510
chr11114115584114115655E07030725
chr11114115779114115907E07030920
chr11114116535114116646E07031676
chr11114116948114117071E07032089
chr11114117164114117322E07032305
chr11114121393114121702E07036534
chr11114121761114122150E07036902
chr11114122161114123140E07037302
chr11114123175114123307E07038316
chr11114123375114124039E07038516
chr11114124119114124286E07039260
chr11114124432114124509E07039573
chr11114124583114124747E07039724
chr11114126967114128136E07042108
chr11114129483114130300E07044624
chr11114130323114130998E07045464
chr11114131001114132048E07046142
chr11114132359114132677E07047500
chr11114035626114035670E071-49189
chr11114035683114035752E071-49107
chr11114035848114036084E071-48775
chr11114036103114036926E071-47933
chr11114036970114038513E071-46346
chr11114038515114040853E071-44006
chr11114040928114041429E071-43430
chr11114041445114041577E071-43282
chr11114041638114041878E071-42981
chr11114041879114042802E071-42057
chr11114042807114045449E071-39410
chr11114045478114045574E071-39285
chr11114045576114045645E071-39214
chr11114045653114046098E071-38761
chr11114046398114046651E071-38208
chr11114046709114046865E071-37994
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chr11114103194114103845E08118335
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chr11114035418114035458E082-49401
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chr11114100972114101091E08216113
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chr11114105737114105787E08220878
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chr11114114005114114231E08229146
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chr11114115584114115655E08230725
chr11114128213114129467E08243354
chr11114129483114130300E08244624
chr11114130323114130998E08245464