rs1928415

Homo sapiens
C>T
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0301 (8631/28630,GnomAD)
T=0295 (1479/5008,1000G)
T=0168 (649/3854,ALSPAC)
T=0164 (607/3708,TWINSUK)
chr9:517715 (GRCh38.p7) (9p24.3)
ND
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.517715C>T
GRCh37.p13 chr 9NC_000009.11:g.517715C>T
KANK1 RefSeqGeneNG_016331.2:g.52422C>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 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 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 X1XM_017014511.1: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 X17XM_017014522.1: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=0.247T=0.753
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.996T=0.004
1000GenomesEuropeSub1006C=0.843T=0.157
1000GenomesGlobalStudy-wide5008C=0.705T=0.295
1000GenomesSouth AsianSub978C=0.770T=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.832T=0.168
The Genome Aggregation DatabaseAfricanSub8220C=0.329T=0.671
The Genome Aggregation DatabaseAmericanSub718C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1598C=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub17796C=0.830T=0.169
The Genome Aggregation DatabaseGlobalStudy-wide28630C=0.698T=0.301
The Genome Aggregation DatabaseOtherSub298C=0.930T=0.070
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.836T=0.164
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend
21592109Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX.Beuten JAnn Hum Genet

P-Value

SNP ID p-value Traits Study
rs19284156.02E-07nicotine dependence (smoking)22377092

eQTL of rs1928415 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 rs1928415 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 )
chr9513289513339E067-4376
chr9531455531647E06713740
chr9531769531905E06714054
chr9531935532183E06714220
chr9532466532799E06714751
chr9532810533139E06715095
chr9533317533523E06715602
chr9533684533874E06715969
chr9533985534531E06716270
chr9534669534943E06716954
chr9534972535361E06717257
chr9535463535734E06717748
chr9535743535849E06718028
chr9537040537411E06719325
chr9537498537586E06719783
chr9537646537700E06719931
chr9537748537933E06720033
chr9538059538151E06720344
chr9538240538389E06720525
chr9544406544559E06726691
chr9544637544773E06726922
chr9544890545079E06727175
chr9545245545352E06727530
chr9545536545720E06727821
chr9545724545829E06728009
chr9546262547628E06728547
chr9547741547856E06730026
chr9547891548104E06730176
chr9548193548243E06730478
chr9549261549344E06731546
chr9558445558593E06740730
chr9560046560243E06742331
chr9560348560446E06742633
chr9560500560550E06742785
chr9560701560789E06742986
chr9560845561205E06743130
chr9561468561924E06743753
chr9562439562642E06744724
chr9562912563844E06745197
chr9563874564064E06746159
chr9468576468736E068-48979
chr9471212471329E068-46386
chr9471382471521E068-46194
chr9506162506581E068-11134
chr9512982513130E068-4585
chr9513289513339E068-4376
chr9516802516929E068-786
chr9517302517532E068-183
chr9517540517606E068-109
chr9518043518514E068328
chr9518590518863E068875
chr9519208519255E0681493
chr9522347522756E0684632
chr9522777522925E0685062
chr9523233523540E0685518
chr9523606523708E0685891
chr9524123524262E0686408
chr9524274524366E0686559
chr9524426524494E0686711
chr9524679524729E0686964
chr9531088531237E06813373
chr9531312531362E06813597
chr9531455531647E06813740
chr9531769531905E06814054
chr9531935532183E06814220
chr9532466532799E06814751
chr9532810533139E06815095
chr9533317533523E06815602
chr9533684533874E06815969
chr9533985534531E06816270
chr9534669534943E06816954
chr9534972535361E06817257
chr9535463535734E06817748
chr9535743535849E06818028
chr9536038536078E06818323
chr9536407536466E06818692
chr9536679536748E06818964
chr9536786536914E06819071
chr9536921537020E06819206
chr9537040537411E06819325
chr9537498537586E06819783
chr9537646537700E06819931
chr9537748537933E06820033
chr9544239544289E06826524
chr9544406544559E06826691
chr9544637544773E06826922
chr9544890545079E06827175
chr9545245545352E06827530
chr9545536545720E06827821
chr9545724545829E06828009
chr9547891548104E06830176
chr9548193548243E06830478
chr9548384548463E06830669
chr9552035552935E06834320
chr9560845561205E06843130
chr9561468561924E06843753
chr9562439562642E06844724
chr9564319564395E06846604
chr9564787564837E06847072
chr9471212471329E069-46386
chr9471382471521E069-46194
chr9512982513130E069-4585
chr9513289513339E069-4376
chr9522777522925E0695062
chr9523233523540E0695518
chr9530500530657E06912785
chr9530714530987E06912999
chr9531088531237E06913373
chr9531312531362E06913597
chr9531455531647E06913740
chr9531769531905E06914054
chr9531935532183E06914220
chr9532466532799E06914751
chr9532810533139E06915095
chr9533317533523E06915602
chr9533684533874E06915969
chr9533985534531E06916270
chr9534669534943E06916954
chr9534972535361E06917257
chr9535743535849E06918028
chr9536921537020E06919206
chr9537040537411E06919325
chr9537498537586E06919783
chr9537646537700E06919931
chr9537748537933E06920033
chr9538059538151E06920344
chr9538240538389E06920525
chr9544239544289E06926524
chr9544406544559E06926691
chr9544637544773E06926922
chr9544890545079E06927175
chr9545245545352E06927530
chr9545536545720E06927821
chr9545724545829E06928009
chr9546262547628E06928547
chr9547741547856E06930026
chr9547891548104E06930176
chr9548193548243E06930478
chr9549261549344E06931546
chr9549370550149E06931655
chr9552035552935E06934320
chr9560348560446E06942633
chr9560500560550E06942785
chr9560701560789E06942986
chr9560845561205E06943130
chr9561468561924E06943753
chr9562439562642E06944724
chr9562912563844E06945197
chr9563874564064E06946159
chr9564319564395E06946604
chr9564787564837E06947072
chr9564856564906E06947141
chr9564910564998E06947195
chr9567283567458E06949568
chr9471212471329E070-46386
chr9471382471521E070-46194
chr9471641471695E070-46020
chr9471788471868E070-45847
chr9534972535361E07017257
chr9471212471329E071-46386
chr9471382471521E071-46194
chr9506162506581E071-11134
chr9506711506889E071-10826
chr9512033512153E071-5562
chr9512320512364E071-5351
chr9512982513130E071-4585
chr9513289513339E071-4376
chr9516612516696E071-1019
chr9516802516929E071-786
chr9517302517532E071-183
chr9517540517606E071-109
chr9520769520824E0713054
chr9520915520965E0713200
chr9522347522756E0714632
chr9522777522925E0715062
chr9523233523540E0715518
chr9523606523708E0715891
chr9524679524729E0716964
chr9530500530657E07112785
chr9530714530987E07112999
chr9531088531237E07113373
chr9531312531362E07113597
chr9531455531647E07113740
chr9531769531905E07114054
chr9531935532183E07114220
chr9532466532799E07114751
chr9532810533139E07115095
chr9533317533523E07115602
chr9533684533874E07115969
chr9533985534531E07116270
chr9535463535734E07117748
chr9535743535849E07118028
chr9536038536078E07118323
chr9536679536748E07118964
chr9536786536914E07119071
chr9536921537020E07119206
chr9537040537411E07119325
chr9537498537586E07119783
chr9537646537700E07119931
chr9537748537933E07120033
chr9538059538151E07120344
chr9538240538389E07120525
chr9544239544289E07126524
chr9544406544559E07126691
chr9544637544773E07126922
chr9544890545079E07127175
chr9545245545352E07127530
chr9545536545720E07127821
chr9545724545829E07128009
chr9549261549344E07131546
chr9549370550149E07131655
chr9551166551357E07133451
chr9551636551714E07133921
chr9552035552935E07134320
chr9553489553539E07135774
chr9557794558197E07140079
chr9558445558593E07140730
chr9559734560039E07142019
chr9560046560243E07142331
chr9560348560446E07142633
chr9560500560550E07142785
chr9560701560789E07142986
chr9560845561205E07143130
chr9561468561924E07143753
chr9562439562642E07144724
chr9564787564837E07147072
chr9564856564906E07147141
chr9564910564998E07147195
chr9567283567458E07149568
chr9471212471329E072-46386
chr9471382471521E072-46194
chr9503187503271E072-14444
chr9512033512153E072-5562
chr9512320512364E072-5351
chr9512982513130E072-4585
chr9513289513339E072-4376
chr9517302517532E072-183
chr9520769520824E0723054
chr9520915520965E0723200
chr9521278521519E0723563
chr9522777522925E0725062
chr9523233523540E0725518
chr9523606523708E0725891
chr9524123524262E0726408
chr9524274524366E0726559
chr9524426524494E0726711
chr9530714530987E07212999
chr9531088531237E07213373
chr9531312531362E07213597
chr9531455531647E07213740
chr9531769531905E07214054
chr9531935532183E07214220
chr9532466532799E07214751
chr9532810533139E07215095
chr9533317533523E07215602
chr9533684533874E07215969
chr9533985534531E07216270
chr9534669534943E07216954
chr9534972535361E07217257
chr9535463535734E07217748
chr9535743535849E07218028
chr9537646537700E07219931
chr9537748537933E07220033
chr9538059538151E07220344
chr9544890545079E07227175
chr9545245545352E07227530
chr9545536545720E07227821
chr9545724545829E07228009
chr9547891548104E07230176
chr9549261549344E07231546
chr9549370550149E07231655
chr9552035552935E07234320
chr9560845561205E07243130
chr9561468561924E07243753
chr9562439562642E07244724
chr9562912563844E07245197
chr9563874564064E07246159
chr9564319564395E07246604
chr9564787564837E07247072
chr9564856564906E07247141
chr9564910564998E07247195
chr9506162506581E073-11134
chr9522347522756E0734632
chr9522777522925E0735062
chr9532810533139E07315095
chr9533317533523E07315602
chr9533684533874E07315969
chr9534669534943E07316954
chr9534972535361E07317257
chr9535463535734E07317748
chr9535743535849E07318028
chr9536921537020E07319206
chr9537040537411E07319325
chr9544890545079E07327175
chr9545245545352E07327530
chr9545536545720E07327821
chr9545724545829E07328009
chr9546262547628E07328547
chr9471212471329E074-46386
chr9471382471521E074-46194
chr9510944511049E074-6666
chr9511129511189E074-6526
chr9511249511305E074-6410
chr9512033512153E074-5562
chr9512320512364E074-5351
chr9512982513130E074-4585
chr9513289513339E074-4376
chr9521278521519E0743563
chr9522347522756E0744632
chr9522777522925E0745062
chr9531088531237E07413373
chr9531312531362E07413597
chr9531455531647E07413740
chr9531769531905E07414054
chr9531935532183E07414220
chr9532466532799E07414751
chr9532810533139E07415095
chr9533317533523E07415602
chr9533684533874E07415969
chr9533985534531E07416270
chr9534669534943E07416954
chr9534972535361E07417257
chr9535463535734E07417748
chr9535743535849E07418028
chr9536407536466E07418692
chr9536679536748E07418964
chr9536786536914E07419071
chr9536921537020E07419206
chr9537040537411E07419325
chr9537498537586E07419783
chr9538240538389E07420525
chr9544239544289E07426524
chr9544406544559E07426691
chr9544637544773E07426922
chr9544890545079E07427175
chr9545245545352E07427530
chr9545536545720E07427821
chr9545724545829E07428009
chr9546262547628E07428547
chr9547741547856E07430026
chr9547891548104E07430176
chr9548193548243E07430478
chr9552035552935E07434320
chr9562439562642E07444724
chr9529404529454E08111689
chr9529589529642E08111874
chr9546262547628E08128547
chr9547741547856E08130026
chr9552035552935E08134320









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9469598471163E067-46552
chr9503273506125E067-11590
chr9469598471163E068-46552
chr9503273506125E068-11590
chr9469598471163E069-46552
chr9503273506125E069-11590
chr9469598471163E070-46552
chr9503273506125E070-11590
chr9469598471163E071-46552
chr9503273506125E071-11590
chr9469598471163E072-46552
chr9503273506125E072-11590
chr9469598471163E073-46552
chr9503273506125E073-11590
chr9469598471163E074-46552
chr9503273506125E074-11590
chr9469598471163E081-46552
chr9469598471163E082-46552
chr9503273506125E082-11590