rs2804276

Homo sapiens
T>C
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0184 (5511/29942,GnomAD)
T==0180 (5256/29118,TOPMED)
T==0208 (1043/5008,1000G)
T==0206 (792/3854,ALSPAC)
T==0203 (751/3708,TWINSUK)
chr9:580725 (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.580725T>C
GRCh37.p13 chr 9NC_000009.11:g.580725T>C
KANK1 RefSeqGeneNG_016331.2:g.115432T>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=0.076C=0.924
1000GenomesAmericanSub694T=0.280C=0.720
1000GenomesEast AsianSub1008T=0.331C=0.669
1000GenomesEuropeSub1006T=0.216C=0.784
1000GenomesGlobalStudy-wide5008T=0.208C=0.792
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.206C=0.794
The Genome Aggregation DatabaseAfricanSub8720T=0.101C=0.899
The Genome Aggregation DatabaseAmericanSub836T=0.220C=0.780
The Genome Aggregation DatabaseEast AsianSub1610T=0.324C=0.676
The Genome Aggregation DatabaseEuropeSub18474T=0.207C=0.793
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.184C=0.815
The Genome Aggregation DatabaseOtherSub302T=0.340C=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.180C=0.819
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.203C=0.797
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
rs28042760.000186alcohol consumption23743675

eQTL of rs2804276 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 rs2804276 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 )
chr9531455531647E067-49078
chr9531769531905E067-48820
chr9531935532183E067-48542
chr9532466532799E067-47926
chr9532810533139E067-47586
chr9533317533523E067-47202
chr9533684533874E067-46851
chr9533985534531E067-46194
chr9534669534943E067-45782
chr9534972535361E067-45364
chr9535463535734E067-44991
chr9535743535849E067-44876
chr9537040537411E067-43314
chr9537498537586E067-43139
chr9537646537700E067-43025
chr9537748537933E067-42792
chr9538059538151E067-42574
chr9538240538389E067-42336
chr9544406544559E067-36166
chr9544637544773E067-35952
chr9544890545079E067-35646
chr9545245545352E067-35373
chr9545536545720E067-35005
chr9545724545829E067-34896
chr9546262547628E067-33097
chr9547741547856E067-32869
chr9547891548104E067-32621
chr9548193548243E067-32482
chr9549261549344E067-31381
chr9558445558593E067-22132
chr9560046560243E067-20482
chr9560348560446E067-20279
chr9560500560550E067-20175
chr9560701560789E067-19936
chr9560845561205E067-19520
chr9561468561924E067-18801
chr9562439562642E067-18083
chr9562912563844E067-16881
chr9563874564064E067-16661
chr9569032570658E067-10067
chr9570713570786E067-9939
chr9570925570999E067-9726
chr9571096571215E067-9510
chr9571221571532E067-9193
chr9571582572115E067-8610
chr9572958573162E067-7563
chr9573583574603E067-6122
chr9589168589389E0678443
chr9589520589584E0678795
chr9589600590159E0678875
chr9590160590507E0679435
chr9591279591734E06710554
chr9591999592597E06711274
chr9596434596484E06715709
chr9611236611286E06730511
chr9611471611521E06730746
chr9613610614810E06732885
chr9614921614971E06734196
chr9614997615051E06734272
chr9625970626215E06745245
chr9626378626418E06745653
chr9626554626692E06745829
chr9626731626962E06746006
chr9627032627454E06746307
chr9531088531237E068-49488
chr9531312531362E068-49363
chr9531455531647E068-49078
chr9531769531905E068-48820
chr9531935532183E068-48542
chr9532466532799E068-47926
chr9532810533139E068-47586
chr9533317533523E068-47202
chr9533684533874E068-46851
chr9533985534531E068-46194
chr9534669534943E068-45782
chr9534972535361E068-45364
chr9535463535734E068-44991
chr9535743535849E068-44876
chr9536038536078E068-44647
chr9536407536466E068-44259
chr9536679536748E068-43977
chr9536786536914E068-43811
chr9536921537020E068-43705
chr9537040537411E068-43314
chr9537498537586E068-43139
chr9537646537700E068-43025
chr9537748537933E068-42792
chr9544239544289E068-36436
chr9544406544559E068-36166
chr9544637544773E068-35952
chr9544890545079E068-35646
chr9545245545352E068-35373
chr9545536545720E068-35005
chr9545724545829E068-34896
chr9547891548104E068-32621
chr9548193548243E068-32482
chr9548384548463E068-32262
chr9552035552935E068-27790
chr9560845561205E068-19520
chr9561468561924E068-18801
chr9562439562642E068-18083
chr9564319564395E068-16330
chr9564787564837E068-15888
chr9570713570786E068-9939
chr9570925570999E068-9726
chr9571096571215E068-9510
chr9571221571532E068-9193
chr9571582572115E068-8610
chr9573583574603E068-6122
chr9574613574653E068-6072
chr9574754574818E068-5907
chr9579663579718E068-1007
chr9589168589389E0688443
chr9589520589584E0688795
chr9589600590159E0688875
chr9590160590507E0689435
chr9590828590904E06810103
chr9590966591151E06810241
chr9591279591734E06810554
chr9591999592597E06811274
chr9608530608829E06827805
chr9608920609108E06828195
chr9611236611286E06830511
chr9611471611521E06830746
chr9615882615993E06835157
chr9616662617026E06835937
chr9617361617943E06836636
chr9619108619185E06838383
chr9619431619591E06838706
chr9621214621897E06840489
chr9624987625545E06844262
chr9625570625630E06844845
chr9625687625737E06844962
chr9625760625951E06845035
chr9625970626215E06845245
chr9626378626418E06845653
chr9627032627454E06846307
chr9627620627910E06846895
chr9628077628139E06847352
chr9628176628272E06847451
chr9628389628472E06847664
chr9628480628617E06847755
chr9628640628731E06847915
chr9629215629404E06848490
chr9629442629570E06848717
chr9531088531237E069-49488
chr9531312531362E069-49363
chr9531455531647E069-49078
chr9531769531905E069-48820
chr9531935532183E069-48542
chr9532466532799E069-47926
chr9532810533139E069-47586
chr9533317533523E069-47202
chr9533684533874E069-46851
chr9533985534531E069-46194
chr9534669534943E069-45782
chr9534972535361E069-45364
chr9535743535849E069-44876
chr9536921537020E069-43705
chr9537040537411E069-43314
chr9537498537586E069-43139
chr9537646537700E069-43025
chr9537748537933E069-42792
chr9538059538151E069-42574
chr9538240538389E069-42336
chr9544239544289E069-36436
chr9544406544559E069-36166
chr9544637544773E069-35952
chr9544890545079E069-35646
chr9545245545352E069-35373
chr9545536545720E069-35005
chr9545724545829E069-34896
chr9546262547628E069-33097
chr9547741547856E069-32869
chr9547891548104E069-32621
chr9548193548243E069-32482
chr9549261549344E069-31381
chr9549370550149E069-30576
chr9552035552935E069-27790
chr9560348560446E069-20279
chr9560500560550E069-20175
chr9560701560789E069-19936
chr9560845561205E069-19520
chr9561468561924E069-18801
chr9562439562642E069-18083
chr9562912563844E069-16881
chr9563874564064E069-16661
chr9564319564395E069-16330
chr9564787564837E069-15888
chr9564856564906E069-15819
chr9564910564998E069-15727
chr9567283567458E069-13267
chr9567464567885E069-12840
chr9569032570658E069-10067
chr9570713570786E069-9939
chr9570925570999E069-9726
chr9571096571215E069-9510
chr9571221571532E069-9193
chr9571582572115E069-8610
chr9573583574603E069-6122
chr9588968589039E0698243
chr9589168589389E0698443
chr9589520589584E0698795
chr9589600590159E0698875
chr9590160590507E0699435
chr9590828590904E06910103
chr9590966591151E06910241
chr9591279591734E06910554
chr9596434596484E06915709
chr9608530608829E06927805
chr9608920609108E06928195
chr9610709610872E06929984
chr9610900610999E06930175
chr9611236611286E06930511
chr9613610614810E06932885
chr9614921614971E06934196
chr9614997615051E06934272
chr9619431619591E06938706
chr9621214621897E06940489
chr9624987625545E06944262
chr9625570625630E06944845
chr9625687625737E06944962
chr9625760625951E06945035
chr9625970626215E06945245
chr9626378626418E06945653
chr9626554626692E06945829
chr9626731626962E06946006
chr9627032627454E06946307
chr9627620627910E06946895
chr9628077628139E06947352
chr9628176628272E06947451
chr9628389628472E06947664
chr9628480628617E06947755
chr9628640628731E06947915
chr9629215629404E06948490
chr9534972535361E070-45364
chr9531088531237E071-49488
chr9531312531362E071-49363
chr9531455531647E071-49078
chr9531769531905E071-48820
chr9531935532183E071-48542
chr9532466532799E071-47926
chr9532810533139E071-47586
chr9533317533523E071-47202
chr9533684533874E071-46851
chr9533985534531E071-46194
chr9535463535734E071-44991
chr9535743535849E071-44876
chr9536038536078E071-44647
chr9536679536748E071-43977
chr9536786536914E071-43811
chr9536921537020E071-43705
chr9537040537411E071-43314
chr9537498537586E071-43139
chr9537646537700E071-43025
chr9537748537933E071-42792
chr9538059538151E071-42574
chr9538240538389E071-42336
chr9544239544289E071-36436
chr9544406544559E071-36166
chr9544637544773E071-35952
chr9544890545079E071-35646
chr9545245545352E071-35373
chr9545536545720E071-35005
chr9545724545829E071-34896
chr9549261549344E071-31381
chr9549370550149E071-30576
chr9551166551357E071-29368
chr9551636551714E071-29011
chr9552035552935E071-27790
chr9553489553539E071-27186
chr9557794558197E071-22528
chr9558445558593E071-22132
chr9559734560039E071-20686
chr9560046560243E071-20482
chr9560348560446E071-20279
chr9560500560550E071-20175
chr9560701560789E071-19936
chr9560845561205E071-19520
chr9561468561924E071-18801
chr9562439562642E071-18083
chr9564787564837E071-15888
chr9564856564906E071-15819
chr9564910564998E071-15727
chr9567283567458E071-13267
chr9567464567885E071-12840
chr9570713570786E071-9939
chr9570925570999E071-9726
chr9571096571215E071-9510
chr9571221571532E071-9193
chr9571582572115E071-8610
chr9572190572355E071-8370
chr9572408572499E071-8226
chr9572634572717E071-8008
chr9572958573162E071-7563
chr9573583574603E071-6122
chr9574613574653E071-6072
chr9574754574818E071-5907
chr9574933575460E071-5265
chr9578859578948E071-1777
chr9578963579071E071-1654
chr9588763588891E0718038
chr9588968589039E0718243
chr9589168589389E0718443
chr9589520589584E0718795
chr9589600590159E0718875
chr9591279591734E07110554
chr9591999592597E07111274
chr9592742592795E07112017
chr9592890592970E07112165
chr9596434596484E07115709
chr9608530608829E07127805
chr9608920609108E07128195
chr9610633610683E07129908
chr9610709610872E07129984
chr9610900610999E07130175
chr9613610614810E07132885
chr9614921614971E07134196
chr9614997615051E07134272
chr9615455615495E07134730
chr9615882615993E07135157
chr9616662617026E07135937
chr9618535618774E07137810
chr9618781618874E07138056
chr9619108619185E07138383
chr9619431619591E07138706
chr9621214621897E07140489
chr9624857624934E07144132
chr9624987625545E07144262
chr9625570625630E07144845
chr9625687625737E07144962
chr9625760625951E07145035
chr9625970626215E07145245
chr9626378626418E07145653
chr9626554626692E07145829
chr9626731626962E07146006
chr9627032627454E07146307
chr9531088531237E072-49488
chr9531312531362E072-49363
chr9531455531647E072-49078
chr9531769531905E072-48820
chr9531935532183E072-48542
chr9532466532799E072-47926
chr9532810533139E072-47586
chr9533317533523E072-47202
chr9533684533874E072-46851
chr9533985534531E072-46194
chr9534669534943E072-45782
chr9534972535361E072-45364
chr9535463535734E072-44991
chr9535743535849E072-44876
chr9537646537700E072-43025
chr9537748537933E072-42792
chr9538059538151E072-42574
chr9544890545079E072-35646
chr9545245545352E072-35373
chr9545536545720E072-35005
chr9545724545829E072-34896
chr9547891548104E072-32621
chr9549261549344E072-31381
chr9549370550149E072-30576
chr9552035552935E072-27790
chr9560845561205E072-19520
chr9561468561924E072-18801
chr9562439562642E072-18083
chr9562912563844E072-16881
chr9563874564064E072-16661
chr9564319564395E072-16330
chr9564787564837E072-15888
chr9564856564906E072-15819
chr9564910564998E072-15727
chr9569032570658E072-10067
chr9570713570786E072-9939
chr9570925570999E072-9726
chr9571096571215E072-9510
chr9571221571532E072-9193
chr9573583574603E072-6122
chr9574933575460E072-5265
chr9587598587704E0726873
chr9589168589389E0728443
chr9589520589584E0728795
chr9589600590159E0728875
chr9590160590507E0729435
chr9591279591734E07210554
chr9591999592597E07211274
chr9596434596484E07215709
chr9608530608829E07227805
chr9608920609108E07228195
chr9611236611286E07230511
chr9613610614810E07232885
chr9619431619591E07238706
chr9624857624934E07244132
chr9624987625545E07244262
chr9625570625630E07244845
chr9625687625737E07244962
chr9625760625951E07245035
chr9625970626215E07245245
chr9626378626418E07245653
chr9626554626692E07245829
chr9626731626962E07246006
chr9627032627454E07246307
chr9627620627910E07246895
chr9532810533139E073-47586
chr9533317533523E073-47202
chr9533684533874E073-46851
chr9534669534943E073-45782
chr9534972535361E073-45364
chr9535463535734E073-44991
chr9535743535849E073-44876
chr9536921537020E073-43705
chr9537040537411E073-43314
chr9544890545079E073-35646
chr9545245545352E073-35373
chr9545536545720E073-35005
chr9545724545829E073-34896
chr9546262547628E073-33097
chr9573583574603E073-6122
chr9589600590159E0738875
chr9613610614810E07332885
chr9615882615993E07335157
chr9616040616350E07335315
chr9621214621897E07340489
chr9624857624934E07344132
chr9624987625545E07344262
chr9625570625630E07344845
chr9625687625737E07344962
chr9625760625951E07345035
chr9625970626215E07345245
chr9626378626418E07345653
chr9626554626692E07345829
chr9626731626962E07346006
chr9627032627454E07346307
chr9531088531237E074-49488
chr9531312531362E074-49363
chr9531455531647E074-49078
chr9531769531905E074-48820
chr9531935532183E074-48542
chr9532466532799E074-47926
chr9532810533139E074-47586
chr9533317533523E074-47202
chr9533684533874E074-46851
chr9533985534531E074-46194
chr9534669534943E074-45782
chr9534972535361E074-45364
chr9535463535734E074-44991
chr9535743535849E074-44876
chr9536407536466E074-44259
chr9536679536748E074-43977
chr9536786536914E074-43811
chr9536921537020E074-43705
chr9537040537411E074-43314
chr9537498537586E074-43139
chr9538240538389E074-42336
chr9544239544289E074-36436
chr9544406544559E074-36166
chr9544637544773E074-35952
chr9544890545079E074-35646
chr9545245545352E074-35373
chr9545536545720E074-35005
chr9545724545829E074-34896
chr9546262547628E074-33097
chr9547741547856E074-32869
chr9547891548104E074-32621
chr9548193548243E074-32482
chr9552035552935E074-27790
chr9562439562642E074-18083
chr9569032570658E074-10067
chr9570713570786E074-9939
chr9570925570999E074-9726
chr9571096571215E074-9510
chr9571221571532E074-9193
chr9572958573162E074-7563
chr9573583574603E074-6122
chr9588968589039E0748243
chr9589168589389E0748443
chr9589520589584E0748795
chr9589600590159E0748875
chr9590160590507E0749435
chr9591279591734E07410554
chr9591999592597E07411274
chr9596434596484E07415709
chr9613610614810E07432885
chr9614921614971E07434196
chr9614997615051E07434272
chr9617361617943E07436636
chr9618781618874E07438056
chr9619108619185E07438383
chr9619431619591E07438706
chr9624857624934E07444132
chr9624987625545E07444262
chr9625570625630E07444845
chr9625687625737E07444962
chr9625760625951E07445035
chr9625970626215E07445245
chr9626378626418E07445653
chr9626554626692E07445829
chr9626731626962E07446006
chr9627032627454E07446307
chr9627620627910E07446895
chr9628077628139E07447352
chr9628176628272E07447451
chr9628389628472E07447664
chr9546262547628E081-33097
chr9547741547856E081-32869
chr9552035552935E081-27790