rs231910

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

KCNQ1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0454 (13550/29838,GnomAD)
A==0396 (11550/29118,TOPMED)
A==0458 (2296/5008,1000G)
A==0457 (1763/3854,ALSPAC)
A==0465 (1725/3708,TWINSUK)

Position: chr11:2730055 (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.2730055A>G
GRCh37.p13 chr 11	NC_000011.9:g.2751285A>G
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	A=0.288	G=0.712
1000Genomes	American	Sub	694	A=0.580	G=0.420
1000Genomes	East Asian	Sub	1008	A=0.524	G=0.476
1000Genomes	Europe	Sub	1006	A=0.482	G=0.518
1000Genomes	Global	Study-wide	5008	A=0.458	G=0.542
1000Genomes	South Asian	Sub	978	A=0.510	G=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.457	G=0.543
The Genome Aggregation Database	African	Sub	8676	A=0.328	G=0.672
The Genome Aggregation Database	American	Sub	836	A=0.610	G=0.390
The Genome Aggregation Database	East Asian	Sub	1612	A=0.550	G=0.450
The Genome Aggregation Database	Europe	Sub	18414	A=0.498	G=0.501
The Genome Aggregation Database	Global	Study-wide	29838	A=0.454	G=0.545
The Genome Aggregation Database	Other	Sub	300	A=0.420	G=0.580
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.396	G=0.603
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.465	G=0.535

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
rs231910	5.1E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs231910 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 rs231910 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	-41339
chr11	2710015	2710069	E067	-41216
chr11	2710160	2710236	E067	-41049
chr11	2710250	2710300	E067	-40985
chr11	2710377	2710477	E067	-40808
chr11	2712071	2712717	E067	-38568
chr11	2712752	2712890	E067	-38395
chr11	2712898	2713174	E067	-38111
chr11	2713255	2713309	E067	-37976
chr11	2713347	2713467	E067	-37818
chr11	2715711	2715861	E067	-35424
chr11	2723808	2724441	E067	-26844
chr11	2748996	2749046	E067	-2239
chr11	2749094	2749176	E067	-2109
chr11	2749274	2749324	E067	-1961
chr11	2749415	2749455	E067	-1830
chr11	2749520	2749560	E067	-1725
chr11	2749593	2750016	E067	-1269
chr11	2750113	2750395	E067	-890
chr11	2750572	2750826	E067	-459
chr11	2750938	2751195	E067	-90
chr11	2751275	2751384	E067	0
chr11	2751449	2751977	E067	164
chr11	2752021	2752486	E067	736
chr11	2752538	2752762	E067	1253
chr11	2752825	2752875	E067	1540
chr11	2753005	2753074	E067	1720
chr11	2753163	2753332	E067	1878
chr11	2753335	2753501	E067	2050
chr11	2753516	2754426	E067	2231
chr11	2798666	2798819	E067	47381
chr11	2798886	2799153	E067	47601
chr11	2709491	2709603	E068	-41682
chr11	2709746	2709863	E068	-41422
chr11	2709906	2709946	E068	-41339
chr11	2710015	2710069	E068	-41216
chr11	2710160	2710236	E068	-41049
chr11	2710250	2710300	E068	-40985
chr11	2710377	2710477	E068	-40808
chr11	2710750	2710813	E068	-40472
chr11	2710822	2711053	E068	-40232
chr11	2711118	2711349	E068	-39936
chr11	2711375	2711681	E068	-39604
chr11	2712071	2712717	E068	-38568
chr11	2712752	2712890	E068	-38395
chr11	2712898	2713174	E068	-38111
chr11	2713572	2715673	E068	-35612
chr11	2715711	2715861	E068	-35424
chr11	2715862	2716017	E068	-35268
chr11	2723808	2724441	E068	-26844
chr11	2748123	2748208	E068	-3077
chr11	2748354	2748480	E068	-2805
chr11	2748494	2748546	E068	-2739
chr11	2748614	2748713	E068	-2572
chr11	2748740	2748794	E068	-2491
chr11	2748934	2748984	E068	-2301
chr11	2748996	2749046	E068	-2239
chr11	2749094	2749176	E068	-2109
chr11	2749274	2749324	E068	-1961
chr11	2749415	2749455	E068	-1830
chr11	2749520	2749560	E068	-1725
chr11	2749593	2750016	E068	-1269
chr11	2750113	2750395	E068	-890
chr11	2750572	2750826	E068	-459
chr11	2750938	2751195	E068	-90
chr11	2751275	2751384	E068	0
chr11	2751449	2751977	E068	164
chr11	2752021	2752486	E068	736
chr11	2752538	2752762	E068	1253
chr11	2752825	2752875	E068	1540
chr11	2753005	2753074	E068	1720
chr11	2753163	2753332	E068	1878
chr11	2753335	2753501	E068	2050
chr11	2753516	2754426	E068	2231
chr11	2771612	2772179	E068	20327
chr11	2772197	2772337	E068	20912
chr11	2708250	2708462	E069	-42823
chr11	2708509	2708559	E069	-42726
chr11	2708569	2708670	E069	-42615
chr11	2708723	2708802	E069	-42483
chr11	2709746	2709863	E069	-41422
chr11	2709906	2709946	E069	-41339
chr11	2710015	2710069	E069	-41216
chr11	2710160	2710236	E069	-41049
chr11	2710250	2710300	E069	-40985
chr11	2710377	2710477	E069	-40808
chr11	2710750	2710813	E069	-40472
chr11	2710822	2711053	E069	-40232
chr11	2711118	2711349	E069	-39936
chr11	2711375	2711681	E069	-39604
chr11	2711785	2712001	E069	-39284
chr11	2712071	2712717	E069	-38568
chr11	2712752	2712890	E069	-38395
chr11	2712898	2713174	E069	-38111
chr11	2713255	2713309	E069	-37976
chr11	2713347	2713467	E069	-37818
chr11	2713572	2715673	E069	-35612
chr11	2715711	2715861	E069	-35424
chr11	2716550	2716638	E069	-34647
chr11	2716673	2716763	E069	-34522
chr11	2716890	2717060	E069	-34225
chr11	2717193	2717237	E069	-34048
chr11	2718508	2718552	E069	-32733
chr11	2722839	2722966	E069	-28319
chr11	2723076	2723167	E069	-28118
chr11	2723416	2723640	E069	-27645
chr11	2723808	2724441	E069	-26844
chr11	2748123	2748208	E069	-3077
chr11	2748354	2748480	E069	-2805
chr11	2748494	2748546	E069	-2739
chr11	2748614	2748713	E069	-2572
chr11	2748740	2748794	E069	-2491
chr11	2748934	2748984	E069	-2301
chr11	2748996	2749046	E069	-2239
chr11	2749094	2749176	E069	-2109
chr11	2749274	2749324	E069	-1961
chr11	2749415	2749455	E069	-1830
chr11	2749520	2749560	E069	-1725
chr11	2749593	2750016	E069	-1269
chr11	2750113	2750395	E069	-890
chr11	2750572	2750826	E069	-459
chr11	2750938	2751195	E069	-90
chr11	2751275	2751384	E069	0
chr11	2751449	2751977	E069	164
chr11	2752021	2752486	E069	736
chr11	2752538	2752762	E069	1253
chr11	2752825	2752875	E069	1540
chr11	2753005	2753074	E069	1720
chr11	2753163	2753332	E069	1878
chr11	2753335	2753501	E069	2050
chr11	2753516	2754426	E069	2231
chr11	2754780	2755033	E069	3495
chr11	2755087	2755351	E069	3802
chr11	2771612	2772179	E069	20327
chr11	2772197	2772337	E069	20912
chr11	2798666	2798819	E069	47381
chr11	2798886	2799153	E069	47601
chr11	2712752	2712890	E070	-38395
chr11	2713572	2715673	E070	-35612
chr11	2715711	2715861	E070	-35424
chr11	2768032	2768546	E070	16747
chr11	2768590	2768651	E070	17305
chr11	2768693	2769032	E070	17408
chr11	2769068	2769255	E070	17783
chr11	2769278	2769445	E070	17993
chr11	2769594	2769689	E070	18309
chr11	2769731	2769827	E070	18446
chr11	2769946	2770001	E070	18661
chr11	2770034	2770107	E070	18749
chr11	2771486	2771580	E070	20201
chr11	2771612	2772179	E070	20327
chr11	2772197	2772337	E070	20912
chr11	2772667	2772748	E070	21382
chr11	2772798	2772865	E070	21513
chr11	2772894	2773009	E070	21609
chr11	2773030	2773093	E070	21745
chr11	2773132	2773195	E070	21847
chr11	2798886	2799153	E070	47601
chr11	2707412	2707470	E071	-43815
chr11	2707475	2707546	E071	-43739
chr11	2707736	2707808	E071	-43477
chr11	2707985	2708025	E071	-43260
chr11	2708049	2708209	E071	-43076
chr11	2708250	2708462	E071	-42823
chr11	2708509	2708559	E071	-42726
chr11	2708569	2708670	E071	-42615
chr11	2708723	2708802	E071	-42483
chr11	2708857	2708990	E071	-42295
chr11	2709012	2709469	E071	-41816
chr11	2709491	2709603	E071	-41682
chr11	2709746	2709863	E071	-41422
chr11	2709906	2709946	E071	-41339
chr11	2710822	2711053	E071	-40232
chr11	2711375	2711681	E071	-39604
chr11	2711785	2712001	E071	-39284
chr11	2712071	2712717	E071	-38568
chr11	2712752	2712890	E071	-38395
chr11	2712898	2713174	E071	-38111
chr11	2713255	2713309	E071	-37976
chr11	2713347	2713467	E071	-37818
chr11	2713572	2715673	E071	-35612
chr11	2715711	2715861	E071	-35424
chr11	2715862	2716017	E071	-35268
chr11	2723808	2724441	E071	-26844
chr11	2724457	2725276	E071	-26009
chr11	2748123	2748208	E071	-3077
chr11	2748354	2748480	E071	-2805
chr11	2748494	2748546	E071	-2739
chr11	2748614	2748713	E071	-2572
chr11	2748740	2748794	E071	-2491
chr11	2748934	2748984	E071	-2301
chr11	2748996	2749046	E071	-2239
chr11	2749094	2749176	E071	-2109
chr11	2749274	2749324	E071	-1961
chr11	2749415	2749455	E071	-1830
chr11	2749520	2749560	E071	-1725
chr11	2749593	2750016	E071	-1269
chr11	2750113	2750395	E071	-890
chr11	2750572	2750826	E071	-459
chr11	2750938	2751195	E071	-90
chr11	2751275	2751384	E071	0
chr11	2751449	2751977	E071	164
chr11	2752021	2752486	E071	736
chr11	2752538	2752762	E071	1253
chr11	2752825	2752875	E071	1540
chr11	2753005	2753074	E071	1720
chr11	2753163	2753332	E071	1878
chr11	2753335	2753501	E071	2050
chr11	2753516	2754426	E071	2231
chr11	2754780	2755033	E071	3495
chr11	2755087	2755351	E071	3802
chr11	2768590	2768651	E071	17305
chr11	2768693	2769032	E071	17408
chr11	2771612	2772179	E071	20327
chr11	2772197	2772337	E071	20912
chr11	2707736	2707808	E072	-43477
chr11	2708569	2708670	E072	-42615
chr11	2708723	2708802	E072	-42483
chr11	2708857	2708990	E072	-42295
chr11	2709012	2709469	E072	-41816
chr11	2710377	2710477	E072	-40808
chr11	2710750	2710813	E072	-40472
chr11	2710822	2711053	E072	-40232
chr11	2711785	2712001	E072	-39284
chr11	2712071	2712717	E072	-38568
chr11	2712752	2712890	E072	-38395
chr11	2712898	2713174	E072	-38111
chr11	2713255	2713309	E072	-37976
chr11	2713347	2713467	E072	-37818
chr11	2713572	2715673	E072	-35612
chr11	2723808	2724441	E072	-26844
chr11	2724457	2725276	E072	-26009
chr11	2725281	2725392	E072	-25893
chr11	2725448	2725498	E072	-25787
chr11	2725553	2725627	E072	-25658
chr11	2725721	2725792	E072	-25493
chr11	2725909	2726946	E072	-24339
chr11	2748354	2748480	E072	-2805
chr11	2748494	2748546	E072	-2739
chr11	2748614	2748713	E072	-2572
chr11	2748740	2748794	E072	-2491
chr11	2748934	2748984	E072	-2301
chr11	2748996	2749046	E072	-2239
chr11	2749094	2749176	E072	-2109
chr11	2749274	2749324	E072	-1961
chr11	2749415	2749455	E072	-1830
chr11	2749520	2749560	E072	-1725
chr11	2749593	2750016	E072	-1269
chr11	2750113	2750395	E072	-890
chr11	2750572	2750826	E072	-459
chr11	2750938	2751195	E072	-90
chr11	2751275	2751384	E072	0
chr11	2751449	2751977	E072	164
chr11	2752021	2752486	E072	736
chr11	2752538	2752762	E072	1253
chr11	2752825	2752875	E072	1540
chr11	2753005	2753074	E072	1720
chr11	2753163	2753332	E072	1878
chr11	2753335	2753501	E072	2050
chr11	2753516	2754426	E072	2231
chr11	2754780	2755033	E072	3495
chr11	2755087	2755351	E072	3802
chr11	2755408	2755509	E072	4123
chr11	2755619	2755785	E072	4334
chr11	2755890	2755946	E072	4605
chr11	2756128	2756449	E072	4843
chr11	2771486	2771580	E072	20201
chr11	2771612	2772179	E072	20327
chr11	2772197	2772337	E072	20912
chr11	2798666	2798819	E072	47381
chr11	2798886	2799153	E072	47601
chr11	2709012	2709469	E073	-41816
chr11	2709491	2709603	E073	-41682
chr11	2709746	2709863	E073	-41422
chr11	2709906	2709946	E073	-41339
chr11	2710015	2710069	E073	-41216
chr11	2710160	2710236	E073	-41049
chr11	2710250	2710300	E073	-40985
chr11	2710377	2710477	E073	-40808
chr11	2710750	2710813	E073	-40472
chr11	2710822	2711053	E073	-40232
chr11	2711118	2711349	E073	-39936
chr11	2711375	2711681	E073	-39604
chr11	2711785	2712001	E073	-39284
chr11	2712071	2712717	E073	-38568
chr11	2712752	2712890	E073	-38395
chr11	2712898	2713174	E073	-38111
chr11	2713255	2713309	E073	-37976
chr11	2713347	2713467	E073	-37818
chr11	2713572	2715673	E073	-35612
chr11	2748614	2748713	E073	-2572
chr11	2748740	2748794	E073	-2491
chr11	2748934	2748984	E073	-2301
chr11	2748996	2749046	E073	-2239
chr11	2749094	2749176	E073	-2109
chr11	2749274	2749324	E073	-1961
chr11	2749415	2749455	E073	-1830
chr11	2749520	2749560	E073	-1725
chr11	2749593	2750016	E073	-1269
chr11	2750572	2750826	E073	-459
chr11	2750938	2751195	E073	-90
chr11	2751275	2751384	E073	0
chr11	2751449	2751977	E073	164
chr11	2752021	2752486	E073	736
chr11	2752538	2752762	E073	1253
chr11	2752825	2752875	E073	1540
chr11	2753005	2753074	E073	1720
chr11	2753163	2753332	E073	1878
chr11	2753335	2753501	E073	2050
chr11	2707736	2707808	E074	-43477
chr11	2707985	2708025	E074	-43260
chr11	2708049	2708209	E074	-43076
chr11	2708250	2708462	E074	-42823
chr11	2709012	2709469	E074	-41816
chr11	2709491	2709603	E074	-41682
chr11	2709746	2709863	E074	-41422
chr11	2709906	2709946	E074	-41339
chr11	2710015	2710069	E074	-41216
chr11	2710160	2710236	E074	-41049
chr11	2710250	2710300	E074	-40985
chr11	2710377	2710477	E074	-40808
chr11	2710750	2710813	E074	-40472
chr11	2710822	2711053	E074	-40232
chr11	2711118	2711349	E074	-39936
chr11	2711375	2711681	E074	-39604
chr11	2711785	2712001	E074	-39284
chr11	2712071	2712717	E074	-38568
chr11	2712752	2712890	E074	-38395
chr11	2712898	2713174	E074	-38111
chr11	2713255	2713309	E074	-37976
chr11	2713347	2713467	E074	-37818
chr11	2713572	2715673	E074	-35612
chr11	2715711	2715861	E074	-35424
chr11	2715862	2716017	E074	-35268
chr11	2716347	2716400	E074	-34885
chr11	2716472	2716522	E074	-34763
chr11	2716550	2716638	E074	-34647
chr11	2716890	2717060	E074	-34225
chr11	2723416	2723640	E074	-27645
chr11	2723808	2724441	E074	-26844
chr11	2724457	2725276	E074	-26009
chr11	2748123	2748208	E074	-3077
chr11	2748354	2748480	E074	-2805
chr11	2748494	2748546	E074	-2739
chr11	2748614	2748713	E074	-2572
chr11	2748740	2748794	E074	-2491
chr11	2748934	2748984	E074	-2301
chr11	2748996	2749046	E074	-2239
chr11	2749094	2749176	E074	-2109
chr11	2749274	2749324	E074	-1961
chr11	2749415	2749455	E074	-1830
chr11	2749520	2749560	E074	-1725
chr11	2749593	2750016	E074	-1269
chr11	2750113	2750395	E074	-890
chr11	2750572	2750826	E074	-459
chr11	2750938	2751195	E074	-90
chr11	2751275	2751384	E074	0
chr11	2751449	2751977	E074	164
chr11	2752021	2752486	E074	736
chr11	2752538	2752762	E074	1253
chr11	2752825	2752875	E074	1540
chr11	2753005	2753074	E074	1720
chr11	2753163	2753332	E074	1878
chr11	2753335	2753501	E074	2050
chr11	2753516	2754426	E074	2231
chr11	2754780	2755033	E074	3495
chr11	2755087	2755351	E074	3802
chr11	2771612	2772179	E074	20327
chr11	2772197	2772337	E074	20912
chr11	2738898	2739071	E081	-12214
chr11	2739149	2739199	E081	-12086
chr11	2768590	2768651	E081	17305
chr11	2768693	2769032	E081	17408
chr11	2771486	2771580	E081	20201
chr11	2771612	2772179	E081	20327
chr11	2772197	2772337	E081	20912
chr11	2772667	2772748	E081	21382
chr11	2772798	2772865	E081	21513
chr11	2797354	2797408	E081	46069
chr11	2797773	2797827	E081	46488
chr11	2797863	2797907	E081	46578
chr11	2797947	2798011	E081	46662
chr11	2798160	2798373	E081	46875
chr11	2798384	2798538	E081	47099
chr11	2798666	2798819	E081	47381
chr11	2798886	2799153	E081	47601
chr11	2713572	2715673	E082	-35612
chr11	2716550	2716638	E082	-34647
chr11	2716673	2716763	E082	-34522
chr11	2768032	2768546	E082	16747
chr11	2768590	2768651	E082	17305
chr11	2768693	2769032	E082	17408
chr11	2769068	2769255	E082	17783
chr11	2769278	2769445	E082	17993
chr11	2769594	2769689	E082	18309
chr11	2769731	2769827	E082	18446
chr11	2771486	2771580	E082	20201
chr11	2771612	2772179	E082	20327
chr11	2772197	2772337	E082	20912
chr11	2793002	2793091	E082	41717
chr11	2793118	2793168	E082	41833
chr11	2798160	2798373	E082	46875
chr11	2798384	2798538	E082	47099
chr11	2798666	2798819	E082	47381
chr11	2798886	2799153	E082	47601

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	2718885	2718961	E067	-32324
chr11	2718995	2719069	E067	-32216
chr11	2719208	2719409	E067	-31876
chr11	2719508	2720841	E067	-30444
chr11	2720848	2722814	E067	-28471
chr11	2719508	2720841	E068	-30444
chr11	2720848	2722814	E068	-28471
chr11	2719208	2719409	E069	-31876
chr11	2719508	2720841	E069	-30444
chr11	2720848	2722814	E069	-28471
chr11	2719508	2720841	E070	-30444
chr11	2720848	2722814	E070	-28471
chr11	2719208	2719409	E071	-31876
chr11	2719508	2720841	E071	-30444
chr11	2720848	2722814	E071	-28471
chr11	2718695	2718850	E072	-32435
chr11	2718885	2718961	E072	-32324
chr11	2718995	2719069	E072	-32216
chr11	2719208	2719409	E072	-31876
chr11	2719508	2720841	E072	-30444
chr11	2720848	2722814	E072	-28471
chr11	2719508	2720841	E073	-30444
chr11	2720848	2722814	E073	-28471
chr11	2719508	2720841	E074	-30444
chr11	2720848	2722814	E074	-28471
chr11	2719208	2719409	E081	-31876
chr11	2719508	2720841	E081	-30444
chr11	2719208	2719409	E082	-31876
chr11	2719508	2720841	E082	-30444
chr11	2720848	2722814	E082	-28471