rs2804266

Homo sapiens
T>C
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0358 (10717/29934,GnomAD)
T==0413 (12038/29118,TOPMED)
T==0419 (2097/5008,1000G)
T==0239 (920/3854,ALSPAC)
T==0225 (835/3708,TWINSUK)
chr9:568384 (GRCh38.p7) (9p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.568384T>C
GRCh37.p13 chr 9NC_000009.11:g.568384T>C
KANK1 RefSeqGeneNG_016331.2:g.103091T>C

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 X6XM_011517820.1: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 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
1000GenomesAfricanSub1322T=0.621C=0.379
1000GenomesAmericanSub694T=0.350C=0.650
1000GenomesEast AsianSub1008T=0.537C=0.463
1000GenomesEuropeSub1006T=0.255C=0.745
1000GenomesGlobalStudy-wide5008T=0.419C=0.581
1000GenomesSouth AsianSub978T=0.240C=0.760
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.239C=0.761
The Genome Aggregation DatabaseAfricanSub8710T=0.539C=0.461
The Genome Aggregation DatabaseAmericanSub838T=0.310C=0.690
The Genome Aggregation DatabaseEast AsianSub1608T=0.593C=0.407
The Genome Aggregation DatabaseEuropeSub18476T=0.253C=0.746
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.358C=0.642
The Genome Aggregation DatabaseOtherSub302T=0.380C=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.413C=0.586
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.225C=0.775
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs28042663.79E-05alcohol consumption23743675

eQTL of rs2804266 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 rs2804266 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 )
chr9531455531647E067-36737
chr9531769531905E067-36479
chr9531935532183E067-36201
chr9532466532799E067-35585
chr9532810533139E067-35245
chr9533317533523E067-34861
chr9533684533874E067-34510
chr9533985534531E067-33853
chr9534669534943E067-33441
chr9534972535361E067-33023
chr9535463535734E067-32650
chr9535743535849E067-32535
chr9537040537411E067-30973
chr9537498537586E067-30798
chr9537646537700E067-30684
chr9537748537933E067-30451
chr9538059538151E067-30233
chr9538240538389E067-29995
chr9544406544559E067-23825
chr9544637544773E067-23611
chr9544890545079E067-23305
chr9545245545352E067-23032
chr9545536545720E067-22664
chr9545724545829E067-22555
chr9546262547628E067-20756
chr9547741547856E067-20528
chr9547891548104E067-20280
chr9548193548243E067-20141
chr9549261549344E067-19040
chr9558445558593E067-9791
chr9560046560243E067-8141
chr9560348560446E067-7938
chr9560500560550E067-7834
chr9560701560789E067-7595
chr9560845561205E067-7179
chr9561468561924E067-6460
chr9562439562642E067-5742
chr9562912563844E067-4540
chr9563874564064E067-4320
chr9569032570658E067648
chr9570713570786E0672329
chr9570925570999E0672541
chr9571096571215E0672712
chr9571221571532E0672837
chr9571582572115E0673198
chr9572958573162E0674574
chr9573583574603E0675199
chr9589168589389E06720784
chr9589520589584E06721136
chr9589600590159E06721216
chr9590160590507E06721776
chr9591279591734E06722895
chr9591999592597E06723615
chr9596434596484E06728050
chr9611236611286E06742852
chr9611471611521E06743087
chr9613610614810E06745226
chr9614921614971E06746537
chr9614997615051E06746613
chr9518590518863E068-49521
chr9519208519255E068-49129
chr9522347522756E068-45628
chr9522777522925E068-45459
chr9523233523540E068-44844
chr9523606523708E068-44676
chr9524123524262E068-44122
chr9524274524366E068-44018
chr9524426524494E068-43890
chr9524679524729E068-43655
chr9531088531237E068-37147
chr9531312531362E068-37022
chr9531455531647E068-36737
chr9531769531905E068-36479
chr9531935532183E068-36201
chr9532466532799E068-35585
chr9532810533139E068-35245
chr9533317533523E068-34861
chr9533684533874E068-34510
chr9533985534531E068-33853
chr9534669534943E068-33441
chr9534972535361E068-33023
chr9535463535734E068-32650
chr9535743535849E068-32535
chr9536038536078E068-32306
chr9536407536466E068-31918
chr9536679536748E068-31636
chr9536786536914E068-31470
chr9536921537020E068-31364
chr9537040537411E068-30973
chr9537498537586E068-30798
chr9537646537700E068-30684
chr9537748537933E068-30451
chr9544239544289E068-24095
chr9544406544559E068-23825
chr9544637544773E068-23611
chr9544890545079E068-23305
chr9545245545352E068-23032
chr9545536545720E068-22664
chr9545724545829E068-22555
chr9547891548104E068-20280
chr9548193548243E068-20141
chr9548384548463E068-19921
chr9552035552935E068-15449
chr9560845561205E068-7179
chr9561468561924E068-6460
chr9562439562642E068-5742
chr9564319564395E068-3989
chr9564787564837E068-3547
chr9570713570786E0682329
chr9570925570999E0682541
chr9571096571215E0682712
chr9571221571532E0682837
chr9571582572115E0683198
chr9573583574603E0685199
chr9574613574653E0686229
chr9574754574818E0686370
chr9579663579718E06811279
chr9589168589389E06820784
chr9589520589584E06821136
chr9589600590159E06821216
chr9590160590507E06821776
chr9590828590904E06822444
chr9590966591151E06822582
chr9591279591734E06822895
chr9591999592597E06823615
chr9608530608829E06840146
chr9608920609108E06840536
chr9611236611286E06842852
chr9611471611521E06843087
chr9615882615993E06847498
chr9616662617026E06848278
chr9617361617943E06848977
chr9522777522925E069-45459
chr9523233523540E069-44844
chr9530500530657E069-37727
chr9530714530987E069-37397
chr9531088531237E069-37147
chr9531312531362E069-37022
chr9531455531647E069-36737
chr9531769531905E069-36479
chr9531935532183E069-36201
chr9532466532799E069-35585
chr9532810533139E069-35245
chr9533317533523E069-34861
chr9533684533874E069-34510
chr9533985534531E069-33853
chr9534669534943E069-33441
chr9534972535361E069-33023
chr9535743535849E069-32535
chr9536921537020E069-31364
chr9537040537411E069-30973
chr9537498537586E069-30798
chr9537646537700E069-30684
chr9537748537933E069-30451
chr9538059538151E069-30233
chr9538240538389E069-29995
chr9544239544289E069-24095
chr9544406544559E069-23825
chr9544637544773E069-23611
chr9544890545079E069-23305
chr9545245545352E069-23032
chr9545536545720E069-22664
chr9545724545829E069-22555
chr9546262547628E069-20756
chr9547741547856E069-20528
chr9547891548104E069-20280
chr9548193548243E069-20141
chr9549261549344E069-19040
chr9549370550149E069-18235
chr9552035552935E069-15449
chr9560348560446E069-7938
chr9560500560550E069-7834
chr9560701560789E069-7595
chr9560845561205E069-7179
chr9561468561924E069-6460
chr9562439562642E069-5742
chr9562912563844E069-4540
chr9563874564064E069-4320
chr9564319564395E069-3989
chr9564787564837E069-3547
chr9564856564906E069-3478
chr9564910564998E069-3386
chr9567283567458E069-926
chr9567464567885E069-499
chr9569032570658E069648
chr9570713570786E0692329
chr9570925570999E0692541
chr9571096571215E0692712
chr9571221571532E0692837
chr9571582572115E0693198
chr9573583574603E0695199
chr9588968589039E06920584
chr9589168589389E06920784
chr9589520589584E06921136
chr9589600590159E06921216
chr9590160590507E06921776
chr9590828590904E06922444
chr9590966591151E06922582
chr9591279591734E06922895
chr9596434596484E06928050
chr9608530608829E06940146
chr9608920609108E06940536
chr9610709610872E06942325
chr9610900610999E06942516
chr9611236611286E06942852
chr9613610614810E06945226
chr9614921614971E06946537
chr9614997615051E06946613
chr9534972535361E070-33023
chr9520769520824E071-47560
chr9520915520965E071-47419
chr9522347522756E071-45628
chr9522777522925E071-45459
chr9523233523540E071-44844
chr9523606523708E071-44676
chr9524679524729E071-43655
chr9530500530657E071-37727
chr9530714530987E071-37397
chr9531088531237E071-37147
chr9531312531362E071-37022
chr9531455531647E071-36737
chr9531769531905E071-36479
chr9531935532183E071-36201
chr9532466532799E071-35585
chr9532810533139E071-35245
chr9533317533523E071-34861
chr9533684533874E071-34510
chr9533985534531E071-33853
chr9535463535734E071-32650
chr9535743535849E071-32535
chr9536038536078E071-32306
chr9536679536748E071-31636
chr9536786536914E071-31470
chr9536921537020E071-31364
chr9537040537411E071-30973
chr9537498537586E071-30798
chr9537646537700E071-30684
chr9537748537933E071-30451
chr9538059538151E071-30233
chr9538240538389E071-29995
chr9544239544289E071-24095
chr9544406544559E071-23825
chr9544637544773E071-23611
chr9544890545079E071-23305
chr9545245545352E071-23032
chr9545536545720E071-22664
chr9545724545829E071-22555
chr9549261549344E071-19040
chr9549370550149E071-18235
chr9551166551357E071-17027
chr9551636551714E071-16670
chr9552035552935E071-15449
chr9553489553539E071-14845
chr9557794558197E071-10187
chr9558445558593E071-9791
chr9559734560039E071-8345
chr9560046560243E071-8141
chr9560348560446E071-7938
chr9560500560550E071-7834
chr9560701560789E071-7595
chr9560845561205E071-7179
chr9561468561924E071-6460
chr9562439562642E071-5742
chr9564787564837E071-3547
chr9564856564906E071-3478
chr9564910564998E071-3386
chr9567283567458E071-926
chr9567464567885E071-499
chr9570713570786E0712329
chr9570925570999E0712541
chr9571096571215E0712712
chr9571221571532E0712837
chr9571582572115E0713198
chr9572190572355E0713806
chr9572408572499E0714024
chr9572634572717E0714250
chr9572958573162E0714574
chr9573583574603E0715199
chr9574613574653E0716229
chr9574754574818E0716370
chr9574933575460E0716549
chr9578859578948E07110475
chr9578963579071E07110579
chr9588763588891E07120379
chr9588968589039E07120584
chr9589168589389E07120784
chr9589520589584E07121136
chr9589600590159E07121216
chr9591279591734E07122895
chr9591999592597E07123615
chr9592742592795E07124358
chr9592890592970E07124506
chr9596434596484E07128050
chr9608530608829E07140146
chr9608920609108E07140536
chr9610633610683E07142249
chr9610709610872E07142325
chr9610900610999E07142516
chr9613610614810E07145226
chr9614921614971E07146537
chr9614997615051E07146613
chr9615455615495E07147071
chr9615882615993E07147498
chr9616662617026E07148278
chr9520769520824E072-47560
chr9520915520965E072-47419
chr9521278521519E072-46865
chr9522777522925E072-45459
chr9523233523540E072-44844
chr9523606523708E072-44676
chr9524123524262E072-44122
chr9524274524366E072-44018
chr9524426524494E072-43890
chr9530714530987E072-37397
chr9531088531237E072-37147
chr9531312531362E072-37022
chr9531455531647E072-36737
chr9531769531905E072-36479
chr9531935532183E072-36201
chr9532466532799E072-35585
chr9532810533139E072-35245
chr9533317533523E072-34861
chr9533684533874E072-34510
chr9533985534531E072-33853
chr9534669534943E072-33441
chr9534972535361E072-33023
chr9535463535734E072-32650
chr9535743535849E072-32535
chr9537646537700E072-30684
chr9537748537933E072-30451
chr9538059538151E072-30233
chr9544890545079E072-23305
chr9545245545352E072-23032
chr9545536545720E072-22664
chr9545724545829E072-22555
chr9547891548104E072-20280
chr9549261549344E072-19040
chr9549370550149E072-18235
chr9552035552935E072-15449
chr9560845561205E072-7179
chr9561468561924E072-6460
chr9562439562642E072-5742
chr9562912563844E072-4540
chr9563874564064E072-4320
chr9564319564395E072-3989
chr9564787564837E072-3547
chr9564856564906E072-3478
chr9564910564998E072-3386
chr9569032570658E072648
chr9570713570786E0722329
chr9570925570999E0722541
chr9571096571215E0722712
chr9571221571532E0722837
chr9573583574603E0725199
chr9574933575460E0726549
chr9587598587704E07219214
chr9589168589389E07220784
chr9589520589584E07221136
chr9589600590159E07221216
chr9590160590507E07221776
chr9591279591734E07222895
chr9591999592597E07223615
chr9596434596484E07228050
chr9608530608829E07240146
chr9608920609108E07240536
chr9611236611286E07242852
chr9613610614810E07245226
chr9522347522756E073-45628
chr9522777522925E073-45459
chr9532810533139E073-35245
chr9533317533523E073-34861
chr9533684533874E073-34510
chr9534669534943E073-33441
chr9534972535361E073-33023
chr9535463535734E073-32650
chr9535743535849E073-32535
chr9536921537020E073-31364
chr9537040537411E073-30973
chr9544890545079E073-23305
chr9545245545352E073-23032
chr9545536545720E073-22664
chr9545724545829E073-22555
chr9546262547628E073-20756
chr9573583574603E0735199
chr9589600590159E07321216
chr9613610614810E07345226
chr9615882615993E07347498
chr9616040616350E07347656
chr9521278521519E074-46865
chr9522347522756E074-45628
chr9522777522925E074-45459
chr9531088531237E074-37147
chr9531312531362E074-37022
chr9531455531647E074-36737
chr9531769531905E074-36479
chr9531935532183E074-36201
chr9532466532799E074-35585
chr9532810533139E074-35245
chr9533317533523E074-34861
chr9533684533874E074-34510
chr9533985534531E074-33853
chr9534669534943E074-33441
chr9534972535361E074-33023
chr9535463535734E074-32650
chr9535743535849E074-32535
chr9536407536466E074-31918
chr9536679536748E074-31636
chr9536786536914E074-31470
chr9536921537020E074-31364
chr9537040537411E074-30973
chr9537498537586E074-30798
chr9538240538389E074-29995
chr9544239544289E074-24095
chr9544406544559E074-23825
chr9544637544773E074-23611
chr9544890545079E074-23305
chr9545245545352E074-23032
chr9545536545720E074-22664
chr9545724545829E074-22555
chr9546262547628E074-20756
chr9547741547856E074-20528
chr9547891548104E074-20280
chr9548193548243E074-20141
chr9552035552935E074-15449
chr9562439562642E074-5742
chr9569032570658E074648
chr9570713570786E0742329
chr9570925570999E0742541
chr9571096571215E0742712
chr9571221571532E0742837
chr9572958573162E0744574
chr9573583574603E0745199
chr9588968589039E07420584
chr9589168589389E07420784
chr9589520589584E07421136
chr9589600590159E07421216
chr9590160590507E07421776
chr9591279591734E07422895
chr9591999592597E07423615
chr9596434596484E07428050
chr9613610614810E07445226
chr9614921614971E07446537
chr9614997615051E07446613
chr9617361617943E07448977
chr9529404529454E081-38930
chr9529589529642E081-38742
chr9546262547628E081-20756
chr9547741547856E081-20528
chr9552035552935E081-15449