rs7047247

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0302 (9036/29902,GnomAD)
G==0339 (9870/29116,TOPMED)
G==0376 (1881/5008,1000G)
G==0188 (723/3854,ALSPAC)
G==0181 (672/3708,TWINSUK)

Position: chr9:613932 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 356 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.613932G>A
GRCh37.p13 chr 9	NC_000009.11:g.613932G>A
KANK1 RefSeqGene	NG_016331.2:g.148639G>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
KANK1 transcript variant 3	NM_001256876.1:c.	N/A	Intron Variant
KANK1 transcript variant 4	NM_001256877.1:c.	N/A	Intron Variant
KANK1 transcript variant 1	NM_015158.3:c.	N/A	Intron Variant
KANK1 transcript variant 2	NM_153186.4:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X2	XM_005251411.2:c.	N/A	Intron Variant
KANK1 transcript variant X5	XM_011517819.1:c.	N/A	Intron Variant
KANK1 transcript variant X6	XM_011517820.1:c.	N/A	Intron Variant
KANK1 transcript variant X1	XM_017014511.1:c.	N/A	Intron Variant
KANK1 transcript variant X3	XM_017014512.1:c.	N/A	Intron Variant
KANK1 transcript variant X4	XM_017014513.1:c.	N/A	Intron Variant
KANK1 transcript variant X9	XM_017014514.1:c.	N/A	Intron Variant
KANK1 transcript variant X10	XM_017014515.1:c.	N/A	Intron Variant
KANK1 transcript variant X11	XM_017014516.1:c.	N/A	Intron Variant
KANK1 transcript variant X12	XM_017014517.1:c.	N/A	Intron Variant
KANK1 transcript variant X13	XM_017014518.1:c.	N/A	Intron Variant
KANK1 transcript variant X14	XM_017014519.1:c.	N/A	Intron Variant
KANK1 transcript variant X15	XM_017014520.1:c.	N/A	Intron Variant
KANK1 transcript variant X16	XM_017014521.1:c.	N/A	Intron Variant
KANK1 transcript variant X17	XM_017014522.1:c.	N/A	Intron Variant
KANK1 transcript variant X18	XM_017014523.1:c.	N/A	Intron Variant
KANK1 transcript variant X19	XM_017014524.1:c.	N/A	Intron Variant
KANK1 transcript variant X20	XM_017014525.1:c.	N/A	Intron Variant
KANK1 transcript variant X21	XM_017014526.1:c.	N/A	Intron Variant
KANK1 transcript variant X29	XM_017014528.1:c.	N/A	Intron Variant
KANK1 transcript variant X24	XM_005251414.3:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X22	XM_005251415.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X26	XM_005251416.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X23	XM_005251417.3:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X25	XM_005251418.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X27	XM_005251419.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X8	XM_006716743.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X7	XM_011517821.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X28	XM_017014527.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X30	XM_017014529.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X31	XM_017014530.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X32	XM_017014531.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X33	XM_017014532.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X34	XM_017014533.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X35	XM_017014534.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X36	XM_017014535.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X37	XM_017014536.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X38	XM_017014537.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X39	XM_017014538.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X41	XM_017014539.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X42	XM_017014540.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X43	XM_017014541.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X44	XM_017014542.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X40	XR_001746257.1:n.	N/A	Intron Variant
KANK1 transcript variant X45	XR_001746258.1:n.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.505	A=0.495
1000Genomes	American	Sub	694	G=0.320	A=0.680
1000Genomes	East Asian	Sub	1008	G=0.559	A=0.441
1000Genomes	Europe	Sub	1006	G=0.211	A=0.789
1000Genomes	Global	Study-wide	5008	G=0.376	A=0.624
1000Genomes	South Asian	Sub	978	G=0.220	A=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.188	A=0.812
The Genome Aggregation Database	African	Sub	8684	G=0.455	A=0.545
The Genome Aggregation Database	American	Sub	838	G=0.290	A=0.710
The Genome Aggregation Database	East Asian	Sub	1610	G=0.609	A=0.391
The Genome Aggregation Database	Europe	Sub	18468	G=0.203	A=0.796
The Genome Aggregation Database	Global	Study-wide	29902	G=0.302	A=0.697
The Genome Aggregation Database	Other	Sub	302	G=0.350	A=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.339	A=0.661
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.181	A=0.819

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs7047247	0.000205	alcohol consumption	23743675

eQTL of rs7047247 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 rs7047247 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 )
chr9	569032	570658	E067	-43274
chr9	570713	570786	E067	-43146
chr9	570925	570999	E067	-42933
chr9	571096	571215	E067	-42717
chr9	571221	571532	E067	-42400
chr9	571582	572115	E067	-41817
chr9	572958	573162	E067	-40770
chr9	573583	574603	E067	-39329
chr9	589168	589389	E067	-24543
chr9	589520	589584	E067	-24348
chr9	589600	590159	E067	-23773
chr9	590160	590507	E067	-23425
chr9	591279	591734	E067	-22198
chr9	591999	592597	E067	-21335
chr9	596434	596484	E067	-17448
chr9	611236	611286	E067	-2646
chr9	611471	611521	E067	-2411
chr9	613610	614810	E067	0
chr9	614921	614971	E067	989
chr9	614997	615051	E067	1065
chr9	625970	626215	E067	12038
chr9	626378	626418	E067	12446
chr9	626554	626692	E067	12622
chr9	626731	626962	E067	12799
chr9	627032	627454	E067	13100
chr9	649464	649952	E067	35532
chr9	650304	650836	E067	36372
chr9	650892	651134	E067	36960
chr9	651529	651665	E067	37597
chr9	652544	653408	E067	38612
chr9	653610	653690	E067	39678
chr9	653720	653818	E067	39788
chr9	655724	656365	E067	41792
chr9	656382	656488	E067	42450
chr9	656617	657549	E067	42685
chr9	564319	564395	E068	-49537
chr9	564787	564837	E068	-49095
chr9	570713	570786	E068	-43146
chr9	570925	570999	E068	-42933
chr9	571096	571215	E068	-42717
chr9	571221	571532	E068	-42400
chr9	571582	572115	E068	-41817
chr9	573583	574603	E068	-39329
chr9	574613	574653	E068	-39279
chr9	574754	574818	E068	-39114
chr9	579663	579718	E068	-34214
chr9	589168	589389	E068	-24543
chr9	589520	589584	E068	-24348
chr9	589600	590159	E068	-23773
chr9	590160	590507	E068	-23425
chr9	590828	590904	E068	-23028
chr9	590966	591151	E068	-22781
chr9	591279	591734	E068	-22198
chr9	591999	592597	E068	-21335
chr9	608530	608829	E068	-5103
chr9	608920	609108	E068	-4824
chr9	611236	611286	E068	-2646
chr9	611471	611521	E068	-2411
chr9	615882	615993	E068	1950
chr9	616662	617026	E068	2730
chr9	617361	617943	E068	3429
chr9	619108	619185	E068	5176
chr9	619431	619591	E068	5499
chr9	621214	621897	E068	7282
chr9	624987	625545	E068	11055
chr9	625570	625630	E068	11638
chr9	625687	625737	E068	11755
chr9	625760	625951	E068	11828
chr9	625970	626215	E068	12038
chr9	626378	626418	E068	12446
chr9	627032	627454	E068	13100
chr9	627620	627910	E068	13688
chr9	628077	628139	E068	14145
chr9	628176	628272	E068	14244
chr9	628389	628472	E068	14457
chr9	628480	628617	E068	14548
chr9	628640	628731	E068	14708
chr9	629215	629404	E068	15283
chr9	629442	629570	E068	15510
chr9	638055	638151	E068	24123
chr9	638197	638452	E068	24265
chr9	639026	639122	E068	25094
chr9	639186	639236	E068	25254
chr9	641365	641539	E068	27433
chr9	641793	641883	E068	27861
chr9	641977	642547	E068	28045
chr9	648430	649387	E068	34498
chr9	649464	649952	E068	35532
chr9	650304	650836	E068	36372
chr9	650892	651134	E068	36960
chr9	651529	651665	E068	37597
chr9	652544	653408	E068	38612
chr9	653610	653690	E068	39678
chr9	653720	653818	E068	39788
chr9	653929	654041	E068	39997
chr9	654174	654375	E068	40242
chr9	654561	654672	E068	40629
chr9	654773	655014	E068	40841
chr9	655724	656365	E068	41792
chr9	656382	656488	E068	42450
chr9	656617	657549	E068	42685
chr9	663607	663784	E068	49675
chr9	564319	564395	E069	-49537
chr9	564787	564837	E069	-49095
chr9	564856	564906	E069	-49026
chr9	564910	564998	E069	-48934
chr9	567283	567458	E069	-46474
chr9	567464	567885	E069	-46047
chr9	569032	570658	E069	-43274
chr9	570713	570786	E069	-43146
chr9	570925	570999	E069	-42933
chr9	571096	571215	E069	-42717
chr9	571221	571532	E069	-42400
chr9	571582	572115	E069	-41817
chr9	573583	574603	E069	-39329
chr9	588968	589039	E069	-24893
chr9	589168	589389	E069	-24543
chr9	589520	589584	E069	-24348
chr9	589600	590159	E069	-23773
chr9	590160	590507	E069	-23425
chr9	590828	590904	E069	-23028
chr9	590966	591151	E069	-22781
chr9	591279	591734	E069	-22198
chr9	596434	596484	E069	-17448
chr9	608530	608829	E069	-5103
chr9	608920	609108	E069	-4824
chr9	610709	610872	E069	-3060
chr9	610900	610999	E069	-2933
chr9	611236	611286	E069	-2646
chr9	613610	614810	E069	0
chr9	614921	614971	E069	989
chr9	614997	615051	E069	1065
chr9	619431	619591	E069	5499
chr9	621214	621897	E069	7282
chr9	624987	625545	E069	11055
chr9	625570	625630	E069	11638
chr9	625687	625737	E069	11755
chr9	625760	625951	E069	11828
chr9	625970	626215	E069	12038
chr9	626378	626418	E069	12446
chr9	626554	626692	E069	12622
chr9	626731	626962	E069	12799
chr9	627032	627454	E069	13100
chr9	627620	627910	E069	13688
chr9	628077	628139	E069	14145
chr9	628176	628272	E069	14244
chr9	628389	628472	E069	14457
chr9	628480	628617	E069	14548
chr9	628640	628731	E069	14708
chr9	629215	629404	E069	15283
chr9	630950	631064	E069	17018
chr9	649464	649952	E069	35532
chr9	650304	650836	E069	36372
chr9	650892	651134	E069	36960
chr9	651529	651665	E069	37597
chr9	653610	653690	E069	39678
chr9	653720	653818	E069	39788
chr9	653929	654041	E069	39997
chr9	654174	654375	E069	40242
chr9	655500	655658	E069	41568
chr9	655724	656365	E069	41792
chr9	656382	656488	E069	42450
chr9	656617	657549	E069	42685
chr9	564787	564837	E071	-49095
chr9	564856	564906	E071	-49026
chr9	564910	564998	E071	-48934
chr9	567283	567458	E071	-46474
chr9	567464	567885	E071	-46047
chr9	570713	570786	E071	-43146
chr9	570925	570999	E071	-42933
chr9	571096	571215	E071	-42717
chr9	571221	571532	E071	-42400
chr9	571582	572115	E071	-41817
chr9	572190	572355	E071	-41577
chr9	572408	572499	E071	-41433
chr9	572634	572717	E071	-41215
chr9	572958	573162	E071	-40770
chr9	573583	574603	E071	-39329
chr9	574613	574653	E071	-39279
chr9	574754	574818	E071	-39114
chr9	574933	575460	E071	-38472
chr9	578859	578948	E071	-34984
chr9	578963	579071	E071	-34861
chr9	588763	588891	E071	-25041
chr9	588968	589039	E071	-24893
chr9	589168	589389	E071	-24543
chr9	589520	589584	E071	-24348
chr9	589600	590159	E071	-23773
chr9	591279	591734	E071	-22198
chr9	591999	592597	E071	-21335
chr9	592742	592795	E071	-21137
chr9	592890	592970	E071	-20962
chr9	596434	596484	E071	-17448
chr9	608530	608829	E071	-5103
chr9	608920	609108	E071	-4824
chr9	610633	610683	E071	-3249
chr9	610709	610872	E071	-3060
chr9	610900	610999	E071	-2933
chr9	613610	614810	E071	0
chr9	614921	614971	E071	989
chr9	614997	615051	E071	1065
chr9	615455	615495	E071	1523
chr9	615882	615993	E071	1950
chr9	616662	617026	E071	2730
chr9	618535	618774	E071	4603
chr9	618781	618874	E071	4849
chr9	619108	619185	E071	5176
chr9	619431	619591	E071	5499
chr9	621214	621897	E071	7282
chr9	624857	624934	E071	10925
chr9	624987	625545	E071	11055
chr9	625570	625630	E071	11638
chr9	625687	625737	E071	11755
chr9	625760	625951	E071	11828
chr9	625970	626215	E071	12038
chr9	626378	626418	E071	12446
chr9	626554	626692	E071	12622
chr9	626731	626962	E071	12799
chr9	627032	627454	E071	13100
chr9	648430	649387	E071	34498
chr9	649464	649952	E071	35532
chr9	650304	650836	E071	36372
chr9	650892	651134	E071	36960
chr9	651529	651665	E071	37597
chr9	652544	653408	E071	38612
chr9	653610	653690	E071	39678
chr9	653720	653818	E071	39788
chr9	653929	654041	E071	39997
chr9	654174	654375	E071	40242
chr9	654561	654672	E071	40629
chr9	654773	655014	E071	40841
chr9	655027	655119	E071	41095
chr9	655724	656365	E071	41792
chr9	656382	656488	E071	42450
chr9	656617	657549	E071	42685
chr9	660865	660915	E071	46933
chr9	660943	661014	E071	47011
chr9	663607	663784	E071	49675
chr9	564319	564395	E072	-49537
chr9	564787	564837	E072	-49095
chr9	564856	564906	E072	-49026
chr9	564910	564998	E072	-48934
chr9	569032	570658	E072	-43274
chr9	570713	570786	E072	-43146
chr9	570925	570999	E072	-42933
chr9	571096	571215	E072	-42717
chr9	571221	571532	E072	-42400
chr9	573583	574603	E072	-39329
chr9	574933	575460	E072	-38472
chr9	587598	587704	E072	-26228
chr9	589168	589389	E072	-24543
chr9	589520	589584	E072	-24348
chr9	589600	590159	E072	-23773
chr9	590160	590507	E072	-23425
chr9	591279	591734	E072	-22198
chr9	591999	592597	E072	-21335
chr9	596434	596484	E072	-17448
chr9	608530	608829	E072	-5103
chr9	608920	609108	E072	-4824
chr9	611236	611286	E072	-2646
chr9	613610	614810	E072	0
chr9	619431	619591	E072	5499
chr9	624857	624934	E072	10925
chr9	624987	625545	E072	11055
chr9	625570	625630	E072	11638
chr9	625687	625737	E072	11755
chr9	625760	625951	E072	11828
chr9	625970	626215	E072	12038
chr9	626378	626418	E072	12446
chr9	626554	626692	E072	12622
chr9	626731	626962	E072	12799
chr9	627032	627454	E072	13100
chr9	627620	627910	E072	13688
chr9	637287	637489	E072	23355
chr9	649464	649952	E072	35532
chr9	650304	650836	E072	36372
chr9	650892	651134	E072	36960
chr9	651529	651665	E072	37597
chr9	652544	653408	E072	38612
chr9	653610	653690	E072	39678
chr9	653720	653818	E072	39788
chr9	653929	654041	E072	39997
chr9	654174	654375	E072	40242
chr9	663607	663784	E072	49675
chr9	573583	574603	E073	-39329
chr9	589600	590159	E073	-23773
chr9	613610	614810	E073	0
chr9	615882	615993	E073	1950
chr9	616040	616350	E073	2108
chr9	621214	621897	E073	7282
chr9	624857	624934	E073	10925
chr9	624987	625545	E073	11055
chr9	625570	625630	E073	11638
chr9	625687	625737	E073	11755
chr9	625760	625951	E073	11828
chr9	625970	626215	E073	12038
chr9	626378	626418	E073	12446
chr9	626554	626692	E073	12622
chr9	626731	626962	E073	12799
chr9	627032	627454	E073	13100
chr9	650304	650836	E073	36372
chr9	650892	651134	E073	36960
chr9	653610	653690	E073	39678
chr9	655724	656365	E073	41792
chr9	656382	656488	E073	42450
chr9	656617	657549	E073	42685
chr9	569032	570658	E074	-43274
chr9	570713	570786	E074	-43146
chr9	570925	570999	E074	-42933
chr9	571096	571215	E074	-42717
chr9	571221	571532	E074	-42400
chr9	572958	573162	E074	-40770
chr9	573583	574603	E074	-39329
chr9	588968	589039	E074	-24893
chr9	589168	589389	E074	-24543
chr9	589520	589584	E074	-24348
chr9	589600	590159	E074	-23773
chr9	590160	590507	E074	-23425
chr9	591279	591734	E074	-22198
chr9	591999	592597	E074	-21335
chr9	596434	596484	E074	-17448
chr9	613610	614810	E074	0
chr9	614921	614971	E074	989
chr9	614997	615051	E074	1065
chr9	617361	617943	E074	3429
chr9	618781	618874	E074	4849
chr9	619108	619185	E074	5176
chr9	619431	619591	E074	5499
chr9	624857	624934	E074	10925
chr9	624987	625545	E074	11055
chr9	625570	625630	E074	11638
chr9	625687	625737	E074	11755
chr9	625760	625951	E074	11828
chr9	625970	626215	E074	12038
chr9	626378	626418	E074	12446
chr9	626554	626692	E074	12622
chr9	626731	626962	E074	12799
chr9	627032	627454	E074	13100
chr9	627620	627910	E074	13688
chr9	628077	628139	E074	14145
chr9	628176	628272	E074	14244
chr9	628389	628472	E074	14457
chr9	649464	649952	E074	35532
chr9	650304	650836	E074	36372
chr9	650892	651134	E074	36960
chr9	651529	651665	E074	37597
chr9	653610	653690	E074	39678
chr9	653720	653818	E074	39788
chr9	653929	654041	E074	39997
chr9	654174	654375	E074	40242
chr9	655724	656365	E074	41792
chr9	656382	656488	E074	42450
chr9	663607	663784	E074	49675
chr9	649464	649952	E081	35532
chr9	649464	649952	E082	35532
chr9	650304	650836	E082	36372