rs6659914

Homo sapiens
A>C
EPHB2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0209 (6238/29738,GnomAD)
C=0187 (5472/29118,TOPMED)
C=0162 (810/5008,1000G)
C=0258 (994/3854,ALSPAC)
C=0264 (979/3708,TWINSUK)
chr1:22819906 (GRCh38.p7) (1p36.12)
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.22819906A>C
GRCh37.p13 chr 1NC_000001.10:g.23146399A>C
EPHB2 RefSeqGene LRG_780

Gene: EPHB2, EPH receptor B2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EPHB2 transcript variant 3NM_001309192.1:c.N/AIntron Variant
EPHB2 transcript variant 4NM_001309193.1:c.N/AIntron Variant
EPHB2 transcript variant 2NM_004442.7:c.N/AIntron Variant
EPHB2 transcript variant 1NM_017449.4:c.N/AIntron Variant
EPHB2 transcript variant X1XM_006710441.3:c.N/AIntron Variant
EPHB2 transcript variant X2XM_006710442.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.939C=0.061
1000GenomesAmericanSub694A=0.740C=0.260
1000GenomesEast AsianSub1008A=0.913C=0.087
1000GenomesEuropeSub1006A=0.747C=0.253
1000GenomesGlobalStudy-wide5008A=0.838C=0.162
1000GenomesSouth AsianSub978A=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.742C=0.258
The Genome Aggregation DatabaseAfricanSub8682A=0.916C=0.084
The Genome Aggregation DatabaseAmericanSub830A=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1602A=0.915C=0.085
The Genome Aggregation DatabaseEuropeSub18324A=0.720C=0.279
The Genome Aggregation DatabaseGlobalStudy-wide29738A=0.790C=0.209
The Genome Aggregation DatabaseOtherSub300A=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.812C=0.187
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.736C=0.264
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
rs66599140.000983nicotine smoking19268276

eQTL of rs6659914 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 rs6659914 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 )
chr12309862023098904E067-47495
chr12309990323099980E067-46419
chr12310021223101316E067-45083
chr12310488123105877E067-40522
chr12311348023113570E067-32829
chr12312572423125774E067-20625
chr12312612623126201E067-20198
chr12312639623126448E067-19951
chr12312649523126780E067-19619
chr12313096023131206E067-15193
chr12313190723132005E067-14394
chr12313204423132440E067-13959
chr12313270823132758E067-13641
chr12313277723133045E067-13354
chr12313308023133454E067-12945
chr12313346023133581E067-12818
chr12313362623133729E067-12670
chr12313396223134054E067-12345
chr12313414323134198E067-12201
chr12313493123135886E067-10513
chr12314073823140833E067-5566
chr12314097623141038E067-5361
chr12314116523141651E067-4748
chr12314206923142317E067-4082
chr12314302023143116E067-3283
chr12314442423144484E067-1915
chr12314487223144952E067-1447
chr12314495623145169E067-1230
chr12315388623154035E0677487
chr12315427623154540E0677877
chr12315466023154887E0678261
chr12315507223155161E0678673
chr12315555523155837E0679156
chr12315585123156002E0679452
chr12315624323156492E0679844
chr12316205523162121E06715656
chr12316219823162272E06715799
chr12316234023162872E06715941
chr12316304523163152E06716646
chr12316775923167967E06721360
chr12316839223168785E06721993
chr12317698723177133E06730588
chr12317729623177437E06730897
chr12317813123178239E06731732
chr12318188423181947E06735485
chr12318195223182035E06735553
chr12318260223182928E06736203
chr12318668023186805E06740281
chr12318699823187218E06740599
chr12318748523187630E06741086
chr12318764523187798E06741246
chr12318801123188099E06741612
chr12318833123188829E06741932
chr12309835023098584E068-47815
chr12309862023098904E068-47495
chr12309918923099274E068-47125
chr12309990323099980E068-46419
chr12310021223101316E068-45083
chr12310235523102440E068-43959
chr12310247523102584E068-43815
chr12310263923102765E068-43634
chr12310403623104274E068-42125
chr12310432923104500E068-41899
chr12310479423104866E068-41533
chr12310488123105877E068-40522
chr12310608123106201E068-40198
chr12310624123106311E068-40088
chr12312798023128601E068-17798
chr12312869923128749E068-17650
chr12313096023131206E068-15193
chr12313190723132005E068-14394
chr12313204423132440E068-13959
chr12313270823132758E068-13641
chr12313277723133045E068-13354
chr12313308023133454E068-12945
chr12313346023133581E068-12818
chr12313362623133729E068-12670
chr12313396223134054E068-12345
chr12313414323134198E068-12201
chr12313493123135886E068-10513
chr12314097623141038E068-5361
chr12314116523141651E068-4748
chr12314754223147690E0681143
chr12315555523155837E0689156
chr12315585123156002E0689452
chr12315624323156492E0689844
chr12316205523162121E06815656
chr12316219823162272E06815799
chr12316775923167967E06821360
chr12316839223168785E06821993
chr12317649123176698E06830092
chr12317698723177133E06830588
chr12317813123178239E06831732
chr12318133623181555E06834937
chr12318188423181947E06835485
chr12318195223182035E06835553
chr12318260223182928E06836203
chr12318748523187630E06841086
chr12318764523187798E06841246
chr12318801123188099E06841612
chr12318833123188829E06841932
chr12309835023098584E069-47815
chr12309862023098904E069-47495
chr12309918923099274E069-47125
chr12309990323099980E069-46419
chr12310021223101316E069-45083
chr12310479423104866E069-41533
chr12310488123105877E069-40522
chr12310608123106201E069-40198
chr12310624123106311E069-40088
chr12310874623109305E069-37094
chr12311348023113570E069-32829
chr12311423423114503E069-31896
chr12311461923114829E069-31570
chr12311485223115173E069-31226
chr12311553223116264E069-30135
chr12311644323116493E069-29906
chr12312116123121894E069-24505
chr12312189623122113E069-24286
chr12312246823122512E069-23887
chr12312612623126201E069-20198
chr12312639623126448E069-19951
chr12312649523126780E069-19619
chr12312697523127061E069-19338
chr12312798023128601E069-17798
chr12312869923128749E069-17650
chr12313046123130579E069-15820
chr12313096023131206E069-15193
chr12313190723132005E069-14394
chr12313204423132440E069-13959
chr12313270823132758E069-13641
chr12313308023133454E069-12945
chr12313346023133581E069-12818
chr12313362623133729E069-12670
chr12313396223134054E069-12345
chr12313414323134198E069-12201
chr12313493123135886E069-10513
chr12314036623140432E069-5967
chr12314073823140833E069-5566
chr12314097623141038E069-5361
chr12314116523141651E069-4748
chr12314495623145169E069-1230
chr12314561623145724E069-675
chr12314586723145973E069-426
chr12314607123146278E069-121
chr12314754223147690E0691143
chr12315555523155837E0699156
chr12315585123156002E0699452
chr12316205523162121E06915656
chr12316219823162272E06915799
chr12316234023162872E06915941
chr12316642723166534E06920028
chr12316839223168785E06921993
chr12317495523175179E06928556
chr12317649123176698E06930092
chr12317698723177133E06930588
chr12317729623177437E06930897
chr12317813123178239E06931732
chr12318133623181555E06934937
chr12318188423181947E06935485
chr12318195223182035E06935553
chr12318260223182928E06936203
chr12318699823187218E06940599
chr12318801123188099E06941612
chr12318833123188829E06941932
chr12318889323188943E06942494
chr12309835023098584E070-47815
chr12309862023098904E070-47495
chr12309918923099274E070-47125
chr12309990323099980E070-46419
chr12310021223101316E070-45083
chr12310152923101604E070-44795
chr12310170323101786E070-44613
chr12310180123102019E070-44380
chr12310202523102078E070-44321
chr12310212923102211E070-44188
chr12310235523102440E070-43959
chr12310247523102584E070-43815
chr12310263923102765E070-43634
chr12310290723103074E070-43325
chr12310339123103479E070-42920
chr12310432923104500E070-41899
chr12310479423104866E070-41533
chr12310488123105877E070-40522
chr12310608123106201E070-40198
chr12310624123106311E070-40088
chr12310669923106749E070-39650
chr12310727923107522E070-38877
chr12310784723107954E070-38445
chr12310800423108072E070-38327
chr12310811823108379E070-38020
chr12310874623109305E070-37094
chr12310962923109693E070-36706
chr12310992223109983E070-36416
chr12311553223116264E070-30135
chr12311644323116493E070-29906
chr12311687523116991E070-29408
chr12311702023117591E070-28808
chr12312116123121894E070-24505
chr12312189623122113E070-24286
chr12312612623126201E070-20198
chr12312639623126448E070-19951
chr12312649523126780E070-19619
chr12312697523127061E070-19338
chr12312798023128601E070-17798
chr12312869923128749E070-17650
chr12313046123130579E070-15820
chr12313096023131206E070-15193
chr12313204423132440E070-13959
chr12313277723133045E070-13354
chr12313308023133454E070-12945
chr12313346023133581E070-12818
chr12313362623133729E070-12670
chr12313396223134054E070-12345
chr12313414323134198E070-12201
chr12313493123135886E070-10513
chr12313606823136191E070-10208
chr12314073823140833E070-5566
chr12314097623141038E070-5361
chr12314116523141651E070-4748
chr12314206923142317E070-4082
chr12314487223144952E070-1447
chr12314495623145169E070-1230
chr12315158823151689E0705189
chr12315209723152770E0705698
chr12315277223152914E0706373
chr12315299523153835E0706596
chr12315388623154035E0707487
chr12315427623154540E0707877
chr12315555523155837E0709156
chr12315585123156002E0709452
chr12315624323156492E0709844
chr12315649923157110E07010100
chr12315758823157652E07011189
chr12315774023157851E07011341
chr12316205523162121E07015656
chr12316219823162272E07015799
chr12316234023162872E07015941
chr12316304523163152E07016646
chr12316642723166534E07020028
chr12316839223168785E07021993
chr12317495523175179E07028556
chr12317520723175344E07028808
chr12318133623181555E07034937
chr12318188423181947E07035485
chr12318195223182035E07035553
chr12318260223182928E07036203
chr12309835023098584E071-47815
chr12309862023098904E071-47495
chr12309918923099274E071-47125
chr12309990323099980E071-46419
chr12310021223101316E071-45083
chr12310479423104866E071-41533
chr12310488123105877E071-40522
chr12310608123106201E071-40198
chr12310624123106311E071-40088
chr12310874623109305E071-37094
chr12311461923114829E071-31570
chr12311485223115173E071-31226
chr12311553223116264E071-30135
chr12312116123121894E071-24505
chr12312572423125774E071-20625
chr12312612623126201E071-20198
chr12312639623126448E071-19951
chr12312649523126780E071-19619
chr12312697523127061E071-19338
chr12312798023128601E071-17798
chr12312869923128749E071-17650
chr12313046123130579E071-15820
chr12313096023131206E071-15193
chr12313190723132005E071-14394
chr12313204423132440E071-13959
chr12313270823132758E071-13641
chr12313277723133045E071-13354
chr12313308023133454E071-12945
chr12313346023133581E071-12818
chr12313362623133729E071-12670
chr12313396223134054E071-12345
chr12313414323134198E071-12201
chr12313493123135886E071-10513
chr12314073823140833E071-5566
chr12314097623141038E071-5361
chr12314116523141651E071-4748
chr12314206923142317E071-4082
chr12314561623145724E071-675
chr12314586723145973E071-426
chr12315299523153835E0716596
chr12315388623154035E0717487
chr12315555523155837E0719156
chr12315585123156002E0719452
chr12316205523162121E07115656
chr12316219823162272E07115799
chr12316234023162872E07115941
chr12316304523163152E07116646
chr12316775923167967E07121360
chr12316839223168785E07121993
chr12317495523175179E07128556
chr12317520723175344E07128808
chr12317649123176698E07130092
chr12317698723177133E07130588
chr12317729623177437E07130897
chr12317813123178239E07131732
chr12317886023178981E07132461
chr12318133623181555E07134937
chr12318188423181947E07135485
chr12318195223182035E07135553
chr12318260223182928E07136203
chr12318354623183596E07137147
chr12318668023186805E07140281
chr12318699823187218E07140599
chr12318748523187630E07141086
chr12318764523187798E07141246
chr12318801123188099E07141612
chr12318833123188829E07141932
chr12309835023098584E072-47815
chr12309862023098904E072-47495
chr12309918923099274E072-47125
chr12309990323099980E072-46419
chr12310021223101316E072-45083
chr12310479423104866E072-41533
chr12310488123105877E072-40522
chr12310608123106201E072-40198
chr12310624123106311E072-40088
chr12311461923114829E072-31570
chr12311485223115173E072-31226
chr12312116123121894E072-24505
chr12312572423125774E072-20625
chr12312612623126201E072-20198
chr12312639623126448E072-19951
chr12312649523126780E072-19619
chr12312697523127061E072-19338
chr12312798023128601E072-17798
chr12312869923128749E072-17650
chr12313046123130579E072-15820
chr12313096023131206E072-15193
chr12313190723132005E072-14394
chr12313204423132440E072-13959
chr12313270823132758E072-13641
chr12313277723133045E072-13354
chr12313308023133454E072-12945
chr12313346023133581E072-12818
chr12313362623133729E072-12670
chr12313396223134054E072-12345
chr12313414323134198E072-12201
chr12313493123135886E072-10513
chr12314036623140432E072-5967
chr12314073823140833E072-5566
chr12314097623141038E072-5361
chr12314116523141651E072-4748
chr12314442423144484E072-1915
chr12314487223144952E072-1447
chr12314495623145169E072-1230
chr12314561623145724E072-675
chr12314586723145973E072-426
chr12314607123146278E072-121
chr12315555523155837E0729156
chr12315585123156002E0729452
chr12316205523162121E07215656
chr12316219823162272E07215799
chr12316234023162872E07215941
chr12316642723166534E07220028
chr12316775923167967E07221360
chr12316839223168785E07221993
chr12317649123176698E07230092
chr12317698723177133E07230588
chr12317729623177437E07230897
chr12317813123178239E07231732
chr12317886023178981E07232461
chr12318133623181555E07234937
chr12318188423181947E07235485
chr12318195223182035E07235553
chr12318260223182928E07236203
chr12318668023186805E07240281
chr12318699823187218E07240599
chr12318748523187630E07241086
chr12318764523187798E07241246
chr12318801123188099E07241612
chr12318833123188829E07241932
chr12309990323099980E073-46419
chr12310021223101316E073-45083
chr12310479423104866E073-41533
chr12310488123105877E073-40522
chr12310608123106201E073-40198
chr12310624123106311E073-40088
chr12310669923106749E073-39650
chr12311348023113570E073-32829
chr12312639623126448E073-19951
chr12312649523126780E073-19619
chr12313046123130579E073-15820
chr12313096023131206E073-15193
chr12313190723132005E073-14394
chr12313204423132440E073-13959
chr12313270823132758E073-13641
chr12313277723133045E073-13354
chr12313308023133454E073-12945
chr12313346023133581E073-12818
chr12313362623133729E073-12670
chr12313396223134054E073-12345
chr12313414323134198E073-12201
chr12313493123135886E073-10513
chr12314073823140833E073-5566
chr12314097623141038E073-5361
chr12314116523141651E073-4748
chr12314495623145169E073-1230
chr12314561623145724E073-675
chr12314586723145973E073-426
chr12314607123146278E073-121
chr12314754223147690E0731143
chr12315585123156002E0739452
chr12317698723177133E07330588
chr12317729623177437E07330897
chr12317813123178239E07331732
chr12318133623181555E07334937
chr12318188423181947E07335485
chr12318195223182035E07335553
chr12318260223182928E07336203
chr12318699823187218E07340599
chr12318748523187630E07341086
chr12318764523187798E07341246
chr12318801123188099E07341612
chr12318833123188829E07341932
chr12309835023098584E074-47815
chr12309862023098904E074-47495
chr12309918923099274E074-47125
chr12309990323099980E074-46419
chr12310021223101316E074-45083
chr12310403623104274E074-42125
chr12310432923104500E074-41899
chr12310479423104866E074-41533
chr12310488123105877E074-40522
chr12310608123106201E074-40198
chr12310624123106311E074-40088
chr12310669923106749E074-39650
chr12310727923107522E074-38877
chr12310800423108072E074-38327
chr12310811823108379E074-38020
chr12310874623109305E074-37094
chr12311272123112844E074-33555
chr12311301223113192E074-33207
chr12311348023113570E074-32829
chr12311423423114503E074-31896
chr12311461923114829E074-31570
chr12311485223115173E074-31226
chr12311702023117591E074-28808
chr12312116123121894E074-24505
chr12312572423125774E074-20625
chr12312612623126201E074-20198
chr12312639623126448E074-19951
chr12312649523126780E074-19619
chr12312697523127061E074-19338
chr12312798023128601E074-17798
chr12312869923128749E074-17650
chr12313046123130579E074-15820
chr12313096023131206E074-15193
chr12313190723132005E074-14394
chr12313204423132440E074-13959
chr12313270823132758E074-13641
chr12313277723133045E074-13354
chr12313308023133454E074-12945
chr12313346023133581E074-12818
chr12313362623133729E074-12670
chr12313396223134054E074-12345
chr12313414323134198E074-12201
chr12313493123135886E074-10513
chr12313606823136191E074-10208
chr12314073823140833E074-5566
chr12314097623141038E074-5361
chr12314116523141651E074-4748
chr12314487223144952E074-1447
chr12314495623145169E074-1230
chr12314561623145724E074-675
chr12314586723145973E074-426
chr12314607123146278E074-121
chr12314633323146413E0740
chr12314709323147155E074694
chr12314754223147690E0741143
chr12315277223152914E0746373
chr12315299523153835E0746596
chr12315388623154035E0747487
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