rs2283214

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KCNQ1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0314 (9411/29944,GnomAD)
A=0325 (9468/29118,TOPMED)
A=0312 (1561/5008,1000G)
A=0258 (996/3854,ALSPAC)
A=0272 (1009/3708,TWINSUK)

Position: chr11:2729490 (GRCh38.p7) (11p15.5)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 405 Enhancers around

Promoter: 30 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.2729490G>A
GRCh37.p13 chr 11	NC_000011.9:g.2750720G>A
KCNQ1 RefSeqGene	LRG_287

Gene: KCNQ1, potassium voltage-gated channel subfamily Q member 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNQ1 transcript variant 1	NM_000218.2:c.	N/A	Intron Variant
KCNQ1 transcript variant 2	NM_181798.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.569	A=0.431
1000Genomes	American	Sub	694	G=0.670	A=0.330
1000Genomes	East Asian	Sub	1008	G=0.749	A=0.251
1000Genomes	Europe	Sub	1006	G=0.707	A=0.293
1000Genomes	Global	Study-wide	5008	G=0.688	A=0.312
1000Genomes	South Asian	Sub	978	G=0.780	A=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.742	A=0.258
The Genome Aggregation Database	African	Sub	8706	G=0.622	A=0.378
The Genome Aggregation Database	American	Sub	836	G=0.690	A=0.310
The Genome Aggregation Database	East Asian	Sub	1620	G=0.728	A=0.272
The Genome Aggregation Database	Europe	Sub	18480	G=0.711	A=0.288
The Genome Aggregation Database	Global	Study-wide	29944	G=0.685	A=0.314
The Genome Aggregation Database	Other	Sub	302	G=0.670	A=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.674	A=0.325
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.728	A=0.272

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs2283214	4.53E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs2283214 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 rs2283214 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 )
chr11	2709906	2709946	E067	-40774
chr11	2710015	2710069	E067	-40651
chr11	2710160	2710236	E067	-40484
chr11	2710250	2710300	E067	-40420
chr11	2710377	2710477	E067	-40243
chr11	2712071	2712717	E067	-38003
chr11	2712752	2712890	E067	-37830
chr11	2712898	2713174	E067	-37546
chr11	2713255	2713309	E067	-37411
chr11	2713347	2713467	E067	-37253
chr11	2715711	2715861	E067	-34859
chr11	2723808	2724441	E067	-26279
chr11	2748996	2749046	E067	-1674
chr11	2749094	2749176	E067	-1544
chr11	2749274	2749324	E067	-1396
chr11	2749415	2749455	E067	-1265
chr11	2749520	2749560	E067	-1160
chr11	2749593	2750016	E067	-704
chr11	2750113	2750395	E067	-325
chr11	2750572	2750826	E067	0
chr11	2750938	2751195	E067	218
chr11	2751275	2751384	E067	555
chr11	2751449	2751977	E067	729
chr11	2752021	2752486	E067	1301
chr11	2752538	2752762	E067	1818
chr11	2752825	2752875	E067	2105
chr11	2753005	2753074	E067	2285
chr11	2753163	2753332	E067	2443
chr11	2753335	2753501	E067	2615
chr11	2753516	2754426	E067	2796
chr11	2798666	2798819	E067	47946
chr11	2798886	2799153	E067	48166
chr11	2709491	2709603	E068	-41117
chr11	2709746	2709863	E068	-40857
chr11	2709906	2709946	E068	-40774
chr11	2710015	2710069	E068	-40651
chr11	2710160	2710236	E068	-40484
chr11	2710250	2710300	E068	-40420
chr11	2710377	2710477	E068	-40243
chr11	2710750	2710813	E068	-39907
chr11	2710822	2711053	E068	-39667
chr11	2711118	2711349	E068	-39371
chr11	2711375	2711681	E068	-39039
chr11	2712071	2712717	E068	-38003
chr11	2712752	2712890	E068	-37830
chr11	2712898	2713174	E068	-37546
chr11	2713572	2715673	E068	-35047
chr11	2715711	2715861	E068	-34859
chr11	2715862	2716017	E068	-34703
chr11	2723808	2724441	E068	-26279
chr11	2748123	2748208	E068	-2512
chr11	2748354	2748480	E068	-2240
chr11	2748494	2748546	E068	-2174
chr11	2748614	2748713	E068	-2007
chr11	2748740	2748794	E068	-1926
chr11	2748934	2748984	E068	-1736
chr11	2748996	2749046	E068	-1674
chr11	2749094	2749176	E068	-1544
chr11	2749274	2749324	E068	-1396
chr11	2749415	2749455	E068	-1265
chr11	2749520	2749560	E068	-1160
chr11	2749593	2750016	E068	-704
chr11	2750113	2750395	E068	-325
chr11	2750572	2750826	E068	0
chr11	2750938	2751195	E068	218
chr11	2751275	2751384	E068	555
chr11	2751449	2751977	E068	729
chr11	2752021	2752486	E068	1301
chr11	2752538	2752762	E068	1818
chr11	2752825	2752875	E068	2105
chr11	2753005	2753074	E068	2285
chr11	2753163	2753332	E068	2443
chr11	2753335	2753501	E068	2615
chr11	2753516	2754426	E068	2796
chr11	2771612	2772179	E068	20892
chr11	2772197	2772337	E068	21477
chr11	2708250	2708462	E069	-42258
chr11	2708509	2708559	E069	-42161
chr11	2708569	2708670	E069	-42050
chr11	2708723	2708802	E069	-41918
chr11	2709746	2709863	E069	-40857
chr11	2709906	2709946	E069	-40774
chr11	2710015	2710069	E069	-40651
chr11	2710160	2710236	E069	-40484
chr11	2710250	2710300	E069	-40420
chr11	2710377	2710477	E069	-40243
chr11	2710750	2710813	E069	-39907
chr11	2710822	2711053	E069	-39667
chr11	2711118	2711349	E069	-39371
chr11	2711375	2711681	E069	-39039
chr11	2711785	2712001	E069	-38719
chr11	2712071	2712717	E069	-38003
chr11	2712752	2712890	E069	-37830
chr11	2712898	2713174	E069	-37546
chr11	2713255	2713309	E069	-37411
chr11	2713347	2713467	E069	-37253
chr11	2713572	2715673	E069	-35047
chr11	2715711	2715861	E069	-34859
chr11	2716550	2716638	E069	-34082
chr11	2716673	2716763	E069	-33957
chr11	2716890	2717060	E069	-33660
chr11	2717193	2717237	E069	-33483
chr11	2718508	2718552	E069	-32168
chr11	2722839	2722966	E069	-27754
chr11	2723076	2723167	E069	-27553
chr11	2723416	2723640	E069	-27080
chr11	2723808	2724441	E069	-26279
chr11	2748123	2748208	E069	-2512
chr11	2748354	2748480	E069	-2240
chr11	2748494	2748546	E069	-2174
chr11	2748614	2748713	E069	-2007
chr11	2748740	2748794	E069	-1926
chr11	2748934	2748984	E069	-1736
chr11	2748996	2749046	E069	-1674
chr11	2749094	2749176	E069	-1544
chr11	2749274	2749324	E069	-1396
chr11	2749415	2749455	E069	-1265
chr11	2749520	2749560	E069	-1160
chr11	2749593	2750016	E069	-704
chr11	2750113	2750395	E069	-325
chr11	2750572	2750826	E069	0
chr11	2750938	2751195	E069	218
chr11	2751275	2751384	E069	555
chr11	2751449	2751977	E069	729
chr11	2752021	2752486	E069	1301
chr11	2752538	2752762	E069	1818
chr11	2752825	2752875	E069	2105
chr11	2753005	2753074	E069	2285
chr11	2753163	2753332	E069	2443
chr11	2753335	2753501	E069	2615
chr11	2753516	2754426	E069	2796
chr11	2754780	2755033	E069	4060
chr11	2755087	2755351	E069	4367
chr11	2771612	2772179	E069	20892
chr11	2772197	2772337	E069	21477
chr11	2798666	2798819	E069	47946
chr11	2798886	2799153	E069	48166
chr11	2712752	2712890	E070	-37830
chr11	2713572	2715673	E070	-35047
chr11	2715711	2715861	E070	-34859
chr11	2768032	2768546	E070	17312
chr11	2768590	2768651	E070	17870
chr11	2768693	2769032	E070	17973
chr11	2769068	2769255	E070	18348
chr11	2769278	2769445	E070	18558
chr11	2769594	2769689	E070	18874
chr11	2769731	2769827	E070	19011
chr11	2769946	2770001	E070	19226
chr11	2770034	2770107	E070	19314
chr11	2771486	2771580	E070	20766
chr11	2771612	2772179	E070	20892
chr11	2772197	2772337	E070	21477
chr11	2772667	2772748	E070	21947
chr11	2772798	2772865	E070	22078
chr11	2772894	2773009	E070	22174
chr11	2773030	2773093	E070	22310
chr11	2773132	2773195	E070	22412
chr11	2798886	2799153	E070	48166
chr11	2707412	2707470	E071	-43250
chr11	2707475	2707546	E071	-43174
chr11	2707736	2707808	E071	-42912
chr11	2707985	2708025	E071	-42695
chr11	2708049	2708209	E071	-42511
chr11	2708250	2708462	E071	-42258
chr11	2708509	2708559	E071	-42161
chr11	2708569	2708670	E071	-42050
chr11	2708723	2708802	E071	-41918
chr11	2708857	2708990	E071	-41730
chr11	2709012	2709469	E071	-41251
chr11	2709491	2709603	E071	-41117
chr11	2709746	2709863	E071	-40857
chr11	2709906	2709946	E071	-40774
chr11	2710822	2711053	E071	-39667
chr11	2711375	2711681	E071	-39039
chr11	2711785	2712001	E071	-38719
chr11	2712071	2712717	E071	-38003
chr11	2712752	2712890	E071	-37830
chr11	2712898	2713174	E071	-37546
chr11	2713255	2713309	E071	-37411
chr11	2713347	2713467	E071	-37253
chr11	2713572	2715673	E071	-35047
chr11	2715711	2715861	E071	-34859
chr11	2715862	2716017	E071	-34703
chr11	2723808	2724441	E071	-26279
chr11	2724457	2725276	E071	-25444
chr11	2748123	2748208	E071	-2512
chr11	2748354	2748480	E071	-2240
chr11	2748494	2748546	E071	-2174
chr11	2748614	2748713	E071	-2007
chr11	2748740	2748794	E071	-1926
chr11	2748934	2748984	E071	-1736
chr11	2748996	2749046	E071	-1674
chr11	2749094	2749176	E071	-1544
chr11	2749274	2749324	E071	-1396
chr11	2749415	2749455	E071	-1265
chr11	2749520	2749560	E071	-1160
chr11	2749593	2750016	E071	-704
chr11	2750113	2750395	E071	-325
chr11	2750572	2750826	E071	0
chr11	2750938	2751195	E071	218
chr11	2751275	2751384	E071	555
chr11	2751449	2751977	E071	729
chr11	2752021	2752486	E071	1301
chr11	2752538	2752762	E071	1818
chr11	2752825	2752875	E071	2105
chr11	2753005	2753074	E071	2285
chr11	2753163	2753332	E071	2443
chr11	2753335	2753501	E071	2615
chr11	2753516	2754426	E071	2796
chr11	2754780	2755033	E071	4060
chr11	2755087	2755351	E071	4367
chr11	2768590	2768651	E071	17870
chr11	2768693	2769032	E071	17973
chr11	2771612	2772179	E071	20892
chr11	2772197	2772337	E071	21477
chr11	2707736	2707808	E072	-42912
chr11	2708569	2708670	E072	-42050
chr11	2708723	2708802	E072	-41918
chr11	2708857	2708990	E072	-41730
chr11	2709012	2709469	E072	-41251
chr11	2710377	2710477	E072	-40243
chr11	2710750	2710813	E072	-39907
chr11	2710822	2711053	E072	-39667
chr11	2711785	2712001	E072	-38719
chr11	2712071	2712717	E072	-38003
chr11	2712752	2712890	E072	-37830
chr11	2712898	2713174	E072	-37546
chr11	2713255	2713309	E072	-37411
chr11	2713347	2713467	E072	-37253
chr11	2713572	2715673	E072	-35047
chr11	2723808	2724441	E072	-26279
chr11	2724457	2725276	E072	-25444
chr11	2725281	2725392	E072	-25328
chr11	2725448	2725498	E072	-25222
chr11	2725553	2725627	E072	-25093
chr11	2725721	2725792	E072	-24928
chr11	2725909	2726946	E072	-23774
chr11	2748354	2748480	E072	-2240
chr11	2748494	2748546	E072	-2174
chr11	2748614	2748713	E072	-2007
chr11	2748740	2748794	E072	-1926
chr11	2748934	2748984	E072	-1736
chr11	2748996	2749046	E072	-1674
chr11	2749094	2749176	E072	-1544
chr11	2749274	2749324	E072	-1396
chr11	2749415	2749455	E072	-1265
chr11	2749520	2749560	E072	-1160
chr11	2749593	2750016	E072	-704
chr11	2750113	2750395	E072	-325
chr11	2750572	2750826	E072	0
chr11	2750938	2751195	E072	218
chr11	2751275	2751384	E072	555
chr11	2751449	2751977	E072	729
chr11	2752021	2752486	E072	1301
chr11	2752538	2752762	E072	1818
chr11	2752825	2752875	E072	2105
chr11	2753005	2753074	E072	2285
chr11	2753163	2753332	E072	2443
chr11	2753335	2753501	E072	2615
chr11	2753516	2754426	E072	2796
chr11	2754780	2755033	E072	4060
chr11	2755087	2755351	E072	4367
chr11	2755408	2755509	E072	4688
chr11	2755619	2755785	E072	4899
chr11	2755890	2755946	E072	5170
chr11	2756128	2756449	E072	5408
chr11	2771486	2771580	E072	20766
chr11	2771612	2772179	E072	20892
chr11	2772197	2772337	E072	21477
chr11	2798666	2798819	E072	47946
chr11	2798886	2799153	E072	48166
chr11	2709012	2709469	E073	-41251
chr11	2709491	2709603	E073	-41117
chr11	2709746	2709863	E073	-40857
chr11	2709906	2709946	E073	-40774
chr11	2710015	2710069	E073	-40651
chr11	2710160	2710236	E073	-40484
chr11	2710250	2710300	E073	-40420
chr11	2710377	2710477	E073	-40243
chr11	2710750	2710813	E073	-39907
chr11	2710822	2711053	E073	-39667
chr11	2711118	2711349	E073	-39371
chr11	2711375	2711681	E073	-39039
chr11	2711785	2712001	E073	-38719
chr11	2712071	2712717	E073	-38003
chr11	2712752	2712890	E073	-37830
chr11	2712898	2713174	E073	-37546
chr11	2713255	2713309	E073	-37411
chr11	2713347	2713467	E073	-37253
chr11	2713572	2715673	E073	-35047
chr11	2748614	2748713	E073	-2007
chr11	2748740	2748794	E073	-1926
chr11	2748934	2748984	E073	-1736
chr11	2748996	2749046	E073	-1674
chr11	2749094	2749176	E073	-1544
chr11	2749274	2749324	E073	-1396
chr11	2749415	2749455	E073	-1265
chr11	2749520	2749560	E073	-1160
chr11	2749593	2750016	E073	-704
chr11	2750572	2750826	E073	0
chr11	2750938	2751195	E073	218
chr11	2751275	2751384	E073	555
chr11	2751449	2751977	E073	729
chr11	2752021	2752486	E073	1301
chr11	2752538	2752762	E073	1818
chr11	2752825	2752875	E073	2105
chr11	2753005	2753074	E073	2285
chr11	2753163	2753332	E073	2443
chr11	2753335	2753501	E073	2615
chr11	2707736	2707808	E074	-42912
chr11	2707985	2708025	E074	-42695
chr11	2708049	2708209	E074	-42511
chr11	2708250	2708462	E074	-42258
chr11	2709012	2709469	E074	-41251
chr11	2709491	2709603	E074	-41117
chr11	2709746	2709863	E074	-40857
chr11	2709906	2709946	E074	-40774
chr11	2710015	2710069	E074	-40651
chr11	2710160	2710236	E074	-40484
chr11	2710250	2710300	E074	-40420
chr11	2710377	2710477	E074	-40243
chr11	2710750	2710813	E074	-39907
chr11	2710822	2711053	E074	-39667
chr11	2711118	2711349	E074	-39371
chr11	2711375	2711681	E074	-39039
chr11	2711785	2712001	E074	-38719
chr11	2712071	2712717	E074	-38003
chr11	2712752	2712890	E074	-37830
chr11	2712898	2713174	E074	-37546
chr11	2713255	2713309	E074	-37411
chr11	2713347	2713467	E074	-37253
chr11	2713572	2715673	E074	-35047
chr11	2715711	2715861	E074	-34859
chr11	2715862	2716017	E074	-34703
chr11	2716347	2716400	E074	-34320
chr11	2716472	2716522	E074	-34198
chr11	2716550	2716638	E074	-34082
chr11	2716890	2717060	E074	-33660
chr11	2723416	2723640	E074	-27080
chr11	2723808	2724441	E074	-26279
chr11	2724457	2725276	E074	-25444
chr11	2748123	2748208	E074	-2512
chr11	2748354	2748480	E074	-2240
chr11	2748494	2748546	E074	-2174
chr11	2748614	2748713	E074	-2007
chr11	2748740	2748794	E074	-1926
chr11	2748934	2748984	E074	-1736
chr11	2748996	2749046	E074	-1674
chr11	2749094	2749176	E074	-1544
chr11	2749274	2749324	E074	-1396
chr11	2749415	2749455	E074	-1265
chr11	2749520	2749560	E074	-1160
chr11	2749593	2750016	E074	-704
chr11	2750113	2750395	E074	-325
chr11	2750572	2750826	E074	0
chr11	2750938	2751195	E074	218
chr11	2751275	2751384	E074	555
chr11	2751449	2751977	E074	729
chr11	2752021	2752486	E074	1301
chr11	2752538	2752762	E074	1818
chr11	2752825	2752875	E074	2105
chr11	2753005	2753074	E074	2285
chr11	2753163	2753332	E074	2443
chr11	2753335	2753501	E074	2615
chr11	2753516	2754426	E074	2796
chr11	2754780	2755033	E074	4060
chr11	2755087	2755351	E074	4367
chr11	2771612	2772179	E074	20892
chr11	2772197	2772337	E074	21477
chr11	2738898	2739071	E081	-11649
chr11	2739149	2739199	E081	-11521
chr11	2768590	2768651	E081	17870
chr11	2768693	2769032	E081	17973
chr11	2771486	2771580	E081	20766
chr11	2771612	2772179	E081	20892
chr11	2772197	2772337	E081	21477
chr11	2772667	2772748	E081	21947
chr11	2772798	2772865	E081	22078
chr11	2797354	2797408	E081	46634
chr11	2797773	2797827	E081	47053
chr11	2797863	2797907	E081	47143
chr11	2797947	2798011	E081	47227
chr11	2798160	2798373	E081	47440
chr11	2798384	2798538	E081	47664
chr11	2798666	2798819	E081	47946
chr11	2798886	2799153	E081	48166
chr11	2713572	2715673	E082	-35047
chr11	2716550	2716638	E082	-34082
chr11	2716673	2716763	E082	-33957
chr11	2768032	2768546	E082	17312
chr11	2768590	2768651	E082	17870
chr11	2768693	2769032	E082	17973
chr11	2769068	2769255	E082	18348
chr11	2769278	2769445	E082	18558
chr11	2769594	2769689	E082	18874
chr11	2769731	2769827	E082	19011
chr11	2771486	2771580	E082	20766
chr11	2771612	2772179	E082	20892
chr11	2772197	2772337	E082	21477
chr11	2793002	2793091	E082	42282
chr11	2793118	2793168	E082	42398
chr11	2798160	2798373	E082	47440
chr11	2798384	2798538	E082	47664
chr11	2798666	2798819	E082	47946
chr11	2798886	2799153	E082	48166

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	2718885	2718961	E067	-31759
chr11	2718995	2719069	E067	-31651
chr11	2719208	2719409	E067	-31311
chr11	2719508	2720841	E067	-29879
chr11	2720848	2722814	E067	-27906
chr11	2719508	2720841	E068	-29879
chr11	2720848	2722814	E068	-27906
chr11	2719208	2719409	E069	-31311
chr11	2719508	2720841	E069	-29879
chr11	2720848	2722814	E069	-27906
chr11	2719508	2720841	E070	-29879
chr11	2720848	2722814	E070	-27906
chr11	2719208	2719409	E071	-31311
chr11	2719508	2720841	E071	-29879
chr11	2720848	2722814	E071	-27906
chr11	2718695	2718850	E072	-31870
chr11	2718885	2718961	E072	-31759
chr11	2718995	2719069	E072	-31651
chr11	2719208	2719409	E072	-31311
chr11	2719508	2720841	E072	-29879
chr11	2720848	2722814	E072	-27906
chr11	2719508	2720841	E073	-29879
chr11	2720848	2722814	E073	-27906
chr11	2719508	2720841	E074	-29879
chr11	2720848	2722814	E074	-27906
chr11	2719208	2719409	E081	-31311
chr11	2719508	2720841	E081	-29879
chr11	2719208	2719409	E082	-31311
chr11	2719508	2720841	E082	-29879
chr11	2720848	2722814	E082	-27906