rs10975061

Homo sapiens
C>T
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0303 (9064/29876,GnomAD)
T=0315 (9175/29118,TOPMED)
T=0443 (2218/5008,1000G)
T=0195 (753/3854,ALSPAC)
T=0186 (688/3708,TWINSUK)
chr9:543631 (GRCh38.p7) (9p24.3)
ND
GWASdb2
1   publication(s)
See rs on genome
436 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.543631C>T
GRCh37.p13 chr 9NC_000009.11:g.543631C>T
KANK1 RefSeqGeneNG_016331.2:g.78338C>T

Gene: KANK1, KN motif and ankyrin repeat domains 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KANK1 transcript variant 3NM_001256876.1:c.N/AIntron Variant
KANK1 transcript variant 4NM_001256877.1:c.N/AIntron Variant
KANK1 transcript variant 1NM_015158.3:c.N/AIntron Variant
KANK1 transcript variant 2NM_153186.4:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X2XM_005251411.2:c.N/AIntron Variant
KANK1 transcript variant X5XM_011517819.1:c.N/AIntron Variant
KANK1 transcript variant X1XM_017014511.1:c.N/AIntron Variant
KANK1 transcript variant X4XM_017014513.1:c.N/AIntron Variant
KANK1 transcript variant X10XM_017014515.1:c.N/AIntron Variant
KANK1 transcript variant X13XM_017014518.1:c.N/AIntron Variant
KANK1 transcript variant X15XM_017014520.1:c.N/AIntron Variant
KANK1 transcript variant X17XM_017014522.1:c.N/AIntron Variant
KANK1 transcript variant X18XM_017014523.1:c.N/AIntron Variant
KANK1 transcript variant X29XM_017014528.1:c.N/AIntron Variant
KANK1 transcript variant X24XM_005251414.3:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X22XM_005251415.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X26XM_005251416.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X23XM_005251417.3:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X25XM_005251418.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X27XM_005251419.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X8XM_006716743.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X6XM_011517820.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X7XM_011517821.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X3XM_017014512.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X9XM_017014514.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X11XM_017014516.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X12XM_017014517.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X14XM_017014519.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X16XM_017014521.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X19XM_017014524.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X20XM_017014525.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X21XM_017014526.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X28XM_017014527.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X30XM_017014529.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X31XM_017014530.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X32XM_017014531.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X33XM_017014532.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X34XM_017014533.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X35XM_017014534.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X36XM_017014535.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X37XM_017014536.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X38XM_017014537.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X39XM_017014538.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X41XM_017014539.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X42XM_017014540.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X43XM_017014541.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X44XM_017014542.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X40XR_001746257.1:n.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X45XR_001746258.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.565T=0.435
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.256T=0.744
1000GenomesEuropeSub1006C=0.785T=0.215
1000GenomesGlobalStudy-wide5008C=0.557T=0.443
1000GenomesSouth AsianSub978C=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.805T=0.195
The Genome Aggregation DatabaseAfricanSub8700C=0.603T=0.397
The Genome Aggregation DatabaseAmericanSub836C=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1616C=0.220T=0.780
The Genome Aggregation DatabaseEuropeSub18422C=0.794T=0.205
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.696T=0.303
The Genome Aggregation DatabaseOtherSub302C=0.720T=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.684T=0.315
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.814T=0.186
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs109750616.6E-06nicotine dependence (smoking)22377092

eQTL of rs10975061 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 rs10975061 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 )
chr9513289513339E067-30292
chr9531455531647E067-11984
chr9531769531905E067-11726
chr9531935532183E067-11448
chr9532466532799E067-10832
chr9532810533139E067-10492
chr9533317533523E067-10108
chr9533684533874E067-9757
chr9533985534531E067-9100
chr9534669534943E067-8688
chr9534972535361E067-8270
chr9535463535734E067-7897
chr9535743535849E067-7782
chr9537040537411E067-6220
chr9537498537586E067-6045
chr9537646537700E067-5931
chr9537748537933E067-5698
chr9538059538151E067-5480
chr9538240538389E067-5242
chr9544406544559E067775
chr9544637544773E0671006
chr9544890545079E0671259
chr9545245545352E0671614
chr9545536545720E0671905
chr9545724545829E0672093
chr9546262547628E0672631
chr9547741547856E0674110
chr9547891548104E0674260
chr9548193548243E0674562
chr9549261549344E0675630
chr9558445558593E06714814
chr9560046560243E06716415
chr9560348560446E06716717
chr9560500560550E06716869
chr9560701560789E06717070
chr9560845561205E06717214
chr9561468561924E06717837
chr9562439562642E06718808
chr9562912563844E06719281
chr9563874564064E06720243
chr9569032570658E06725401
chr9570713570786E06727082
chr9570925570999E06727294
chr9571096571215E06727465
chr9571221571532E06727590
chr9571582572115E06727951
chr9572958573162E06729327
chr9573583574603E06729952
chr9589168589389E06745537
chr9589520589584E06745889
chr9589600590159E06745969
chr9590160590507E06746529
chr9591279591734E06747648
chr9591999592597E06748368
chr9506162506581E068-37050
chr9512982513130E068-30501
chr9513289513339E068-30292
chr9516802516929E068-26702
chr9517302517532E068-26099
chr9517540517606E068-26025
chr9518043518514E068-25117
chr9518590518863E068-24768
chr9519208519255E068-24376
chr9522347522756E068-20875
chr9522777522925E068-20706
chr9523233523540E068-20091
chr9523606523708E068-19923
chr9524123524262E068-19369
chr9524274524366E068-19265
chr9524426524494E068-19137
chr9524679524729E068-18902
chr9531088531237E068-12394
chr9531312531362E068-12269
chr9531455531647E068-11984
chr9531769531905E068-11726
chr9531935532183E068-11448
chr9532466532799E068-10832
chr9532810533139E068-10492
chr9533317533523E068-10108
chr9533684533874E068-9757
chr9533985534531E068-9100
chr9534669534943E068-8688
chr9534972535361E068-8270
chr9535463535734E068-7897
chr9535743535849E068-7782
chr9536038536078E068-7553
chr9536407536466E068-7165
chr9536679536748E068-6883
chr9536786536914E068-6717
chr9536921537020E068-6611
chr9537040537411E068-6220
chr9537498537586E068-6045
chr9537646537700E068-5931
chr9537748537933E068-5698
chr9544239544289E068608
chr9544406544559E068775
chr9544637544773E0681006
chr9544890545079E0681259
chr9545245545352E0681614
chr9545536545720E0681905
chr9545724545829E0682093
chr9547891548104E0684260
chr9548193548243E0684562
chr9548384548463E0684753
chr9552035552935E0688404
chr9560845561205E06817214
chr9561468561924E06817837
chr9562439562642E06818808
chr9564319564395E06820688
chr9564787564837E06821156
chr9570713570786E06827082
chr9570925570999E06827294
chr9571096571215E06827465
chr9571221571532E06827590
chr9571582572115E06827951
chr9573583574603E06829952
chr9574613574653E06830982
chr9574754574818E06831123
chr9579663579718E06836032
chr9589168589389E06845537
chr9589520589584E06845889
chr9589600590159E06845969
chr9590160590507E06846529
chr9590828590904E06847197
chr9590966591151E06847335
chr9591279591734E06847648
chr9591999592597E06848368
chr9512982513130E069-30501
chr9513289513339E069-30292
chr9522777522925E069-20706
chr9523233523540E069-20091
chr9530500530657E069-12974
chr9530714530987E069-12644
chr9531088531237E069-12394
chr9531312531362E069-12269
chr9531455531647E069-11984
chr9531769531905E069-11726
chr9531935532183E069-11448
chr9532466532799E069-10832
chr9532810533139E069-10492
chr9533317533523E069-10108
chr9533684533874E069-9757
chr9533985534531E069-9100
chr9534669534943E069-8688
chr9534972535361E069-8270
chr9535743535849E069-7782
chr9536921537020E069-6611
chr9537040537411E069-6220
chr9537498537586E069-6045
chr9537646537700E069-5931
chr9537748537933E069-5698
chr9538059538151E069-5480
chr9538240538389E069-5242
chr9544239544289E069608
chr9544406544559E069775
chr9544637544773E0691006
chr9544890545079E0691259
chr9545245545352E0691614
chr9545536545720E0691905
chr9545724545829E0692093
chr9546262547628E0692631
chr9547741547856E0694110
chr9547891548104E0694260
chr9548193548243E0694562
chr9549261549344E0695630
chr9549370550149E0695739
chr9552035552935E0698404
chr9560348560446E06916717
chr9560500560550E06916869
chr9560701560789E06917070
chr9560845561205E06917214
chr9561468561924E06917837
chr9562439562642E06918808
chr9562912563844E06919281
chr9563874564064E06920243
chr9564319564395E06920688
chr9564787564837E06921156
chr9564856564906E06921225
chr9564910564998E06921279
chr9567283567458E06923652
chr9567464567885E06923833
chr9569032570658E06925401
chr9570713570786E06927082
chr9570925570999E06927294
chr9571096571215E06927465
chr9571221571532E06927590
chr9571582572115E06927951
chr9573583574603E06929952
chr9588968589039E06945337
chr9589168589389E06945537
chr9589520589584E06945889
chr9589600590159E06945969
chr9590160590507E06946529
chr9590828590904E06947197
chr9590966591151E06947335
chr9591279591734E06947648
chr9534972535361E070-8270
chr9506162506581E071-37050
chr9506711506889E071-36742
chr9512033512153E071-31478
chr9512320512364E071-31267
chr9512982513130E071-30501
chr9513289513339E071-30292
chr9516612516696E071-26935
chr9516802516929E071-26702
chr9517302517532E071-26099
chr9517540517606E071-26025
chr9520769520824E071-22807
chr9520915520965E071-22666
chr9522347522756E071-20875
chr9522777522925E071-20706
chr9523233523540E071-20091
chr9523606523708E071-19923
chr9524679524729E071-18902
chr9530500530657E071-12974
chr9530714530987E071-12644
chr9531088531237E071-12394
chr9531312531362E071-12269
chr9531455531647E071-11984
chr9531769531905E071-11726
chr9531935532183E071-11448
chr9532466532799E071-10832
chr9532810533139E071-10492
chr9533317533523E071-10108
chr9533684533874E071-9757
chr9533985534531E071-9100
chr9535463535734E071-7897
chr9535743535849E071-7782
chr9536038536078E071-7553
chr9536679536748E071-6883
chr9536786536914E071-6717
chr9536921537020E071-6611
chr9537040537411E071-6220
chr9537498537586E071-6045
chr9537646537700E071-5931
chr9537748537933E071-5698
chr9538059538151E071-5480
chr9538240538389E071-5242
chr9544239544289E071608
chr9544406544559E071775
chr9544637544773E0711006
chr9544890545079E0711259
chr9545245545352E0711614
chr9545536545720E0711905
chr9545724545829E0712093
chr9549261549344E0715630
chr9549370550149E0715739
chr9551166551357E0717535
chr9551636551714E0718005
chr9552035552935E0718404
chr9553489553539E0719858
chr9557794558197E07114163
chr9558445558593E07114814
chr9559734560039E07116103
chr9560046560243E07116415
chr9560348560446E07116717
chr9560500560550E07116869
chr9560701560789E07117070
chr9560845561205E07117214
chr9561468561924E07117837
chr9562439562642E07118808
chr9564787564837E07121156
chr9564856564906E07121225
chr9564910564998E07121279
chr9567283567458E07123652
chr9567464567885E07123833
chr9570713570786E07127082
chr9570925570999E07127294
chr9571096571215E07127465
chr9571221571532E07127590
chr9571582572115E07127951
chr9572190572355E07128559
chr9572408572499E07128777
chr9572634572717E07129003
chr9572958573162E07129327
chr9573583574603E07129952
chr9574613574653E07130982
chr9574754574818E07131123
chr9574933575460E07131302
chr9578859578948E07135228
chr9578963579071E07135332
chr9588763588891E07145132
chr9588968589039E07145337
chr9589168589389E07145537
chr9589520589584E07145889
chr9589600590159E07145969
chr9591279591734E07147648
chr9591999592597E07148368
chr9592742592795E07149111
chr9592890592970E07149259
chr9503187503271E072-40360
chr9512033512153E072-31478
chr9512320512364E072-31267
chr9512982513130E072-30501
chr9513289513339E072-30292
chr9517302517532E072-26099
chr9520769520824E072-22807
chr9520915520965E072-22666
chr9521278521519E072-22112
chr9522777522925E072-20706
chr9523233523540E072-20091
chr9523606523708E072-19923
chr9524123524262E072-19369
chr9524274524366E072-19265
chr9524426524494E072-19137
chr9530714530987E072-12644
chr9531088531237E072-12394
chr9531312531362E072-12269
chr9531455531647E072-11984
chr9531769531905E072-11726
chr9531935532183E072-11448
chr9532466532799E072-10832
chr9532810533139E072-10492
chr9533317533523E072-10108
chr9533684533874E072-9757
chr9533985534531E072-9100
chr9534669534943E072-8688
chr9534972535361E072-8270
chr9535463535734E072-7897
chr9535743535849E072-7782
chr9537646537700E072-5931
chr9537748537933E072-5698
chr9538059538151E072-5480
chr9544890545079E0721259
chr9545245545352E0721614
chr9545536545720E0721905
chr9545724545829E0722093
chr9547891548104E0724260
chr9549261549344E0725630
chr9549370550149E0725739
chr9552035552935E0728404
chr9560845561205E07217214
chr9561468561924E07217837
chr9562439562642E07218808
chr9562912563844E07219281
chr9563874564064E07220243
chr9564319564395E07220688
chr9564787564837E07221156
chr9564856564906E07221225
chr9564910564998E07221279
chr9569032570658E07225401
chr9570713570786E07227082
chr9570925570999E07227294
chr9571096571215E07227465
chr9571221571532E07227590
chr9573583574603E07229952
chr9574933575460E07231302
chr9587598587704E07243967
chr9589168589389E07245537
chr9589520589584E07245889
chr9589600590159E07245969
chr9590160590507E07246529
chr9591279591734E07247648
chr9591999592597E07248368
chr9506162506581E073-37050
chr9522347522756E073-20875
chr9522777522925E073-20706
chr9532810533139E073-10492
chr9533317533523E073-10108
chr9533684533874E073-9757
chr9534669534943E073-8688
chr9534972535361E073-8270
chr9535463535734E073-7897
chr9535743535849E073-7782
chr9536921537020E073-6611
chr9537040537411E073-6220
chr9544890545079E0731259
chr9545245545352E0731614
chr9545536545720E0731905
chr9545724545829E0732093
chr9546262547628E0732631
chr9573583574603E07329952
chr9589600590159E07345969
chr9510944511049E074-32582
chr9511129511189E074-32442
chr9511249511305E074-32326
chr9512033512153E074-31478
chr9512320512364E074-31267
chr9512982513130E074-30501
chr9513289513339E074-30292
chr9521278521519E074-22112
chr9522347522756E074-20875
chr9522777522925E074-20706
chr9531088531237E074-12394
chr9531312531362E074-12269
chr9531455531647E074-11984
chr9531769531905E074-11726
chr9531935532183E074-11448
chr9532466532799E074-10832
chr9532810533139E074-10492
chr9533317533523E074-10108
chr9533684533874E074-9757
chr9533985534531E074-9100
chr9534669534943E074-8688
chr9534972535361E074-8270
chr9535463535734E074-7897
chr9535743535849E074-7782
chr9536407536466E074-7165
chr9536679536748E074-6883
chr9536786536914E074-6717
chr9536921537020E074-6611
chr9537040537411E074-6220
chr9537498537586E074-6045
chr9538240538389E074-5242
chr9544239544289E074608
chr9544406544559E074775
chr9544637544773E0741006
chr9544890545079E0741259
chr9545245545352E0741614
chr9545536545720E0741905
chr9545724545829E0742093
chr9546262547628E0742631
chr9547741547856E0744110
chr9547891548104E0744260
chr9548193548243E0744562
chr9552035552935E0748404
chr9562439562642E07418808
chr9569032570658E07425401
chr9570713570786E07427082
chr9570925570999E07427294
chr9571096571215E07427465
chr9571221571532E07427590
chr9572958573162E07429327
chr9573583574603E07429952
chr9588968589039E07445337
chr9589168589389E07445537
chr9589520589584E07445889
chr9589600590159E07445969
chr9590160590507E07446529
chr9591279591734E07447648
chr9591999592597E07448368
chr9529404529454E081-14177
chr9529589529642E081-13989
chr9546262547628E0812631
chr9547741547856E0814110
chr9552035552935E0818404









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9503273506125E067-37506
chr9503273506125E068-37506
chr9503273506125E069-37506
chr9503273506125E070-37506
chr9503273506125E071-37506
chr9503273506125E072-37506
chr9503273506125E073-37506
chr9503273506125E074-37506
chr9503273506125E082-37506