rs10821687

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

ANK3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0070 (2105/29932,GnomAD)
T=0062 (1806/29118,TOPMED)
T=0115 (577/5008,1000G)
T=0053 (204/3854,ALSPAC)
T=0039 (143/3708,TWINSUK)

Position: chr10:60142442 (GRCh38.p7) (10q21.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 167 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.60142442C>T
GRCh37.p13 chr 10	NC_000010.10:g.61902200C>T
ANK3 RefSeqGene	NG_029917.1:g.596085G>A

Gene: ANK3, ankyrin 3, node of Ranvier (ankyrin G)(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK3 transcript variant 3	NM_001204403.1:c.	N/A	Intron Variant
ANK3 transcript variant 4	NM_001204404.1:c.	N/A	Intron Variant
ANK3 transcript variant 5	NM_001320874.1:c.	N/A	Intron Variant
ANK3 transcript variant 1	NM_020987.4:c.	N/A	Intron Variant
ANK3 transcript variant 2	NM_001149.3:c.	N/A	Genic Upstream Transcript Variant
ANK3 transcript variant X38	XM_005269715.3:c.	N/A	Intron Variant
ANK3 transcript variant X25	XM_006717796.3:c.	N/A	Intron Variant
ANK3 transcript variant X34	XM_006717802.3:c.	N/A	Intron Variant
ANK3 transcript variant X24	XM_011539708.2:c.	N/A	Intron Variant
ANK3 transcript variant X27	XM_011539709.2:c.	N/A	Intron Variant
ANK3 transcript variant X1	XM_017016110.1:c.	N/A	Intron Variant
ANK3 transcript variant X2	XM_017016111.1:c.	N/A	Intron Variant
ANK3 transcript variant X3	XM_017016112.1:c.	N/A	Intron Variant
ANK3 transcript variant X4	XM_017016113.1:c.	N/A	Intron Variant
ANK3 transcript variant X6	XM_017016114.1:c.	N/A	Intron Variant
ANK3 transcript variant X10	XM_017016115.1:c.	N/A	Intron Variant
ANK3 transcript variant X16	XM_017016116.1:c.	N/A	Intron Variant
ANK3 transcript variant X17	XM_017016117.1:c.	N/A	Intron Variant
ANK3 transcript variant X19	XM_017016118.1:c.	N/A	Intron Variant
ANK3 transcript variant X20	XM_017016119.1:c.	N/A	Intron Variant
ANK3 transcript variant X21	XM_017016120.1:c.	N/A	Intron Variant
ANK3 transcript variant X22	XM_017016121.1:c.	N/A	Intron Variant
ANK3 transcript variant X26	XM_017016122.1:c.	N/A	Intron Variant
ANK3 transcript variant X28	XM_017016123.1:c.	N/A	Intron Variant
ANK3 transcript variant X29	XM_017016124.1:c.	N/A	Intron Variant
ANK3 transcript variant X30	XM_017016125.1:c.	N/A	Intron Variant
ANK3 transcript variant X31	XM_017016126.1:c.	N/A	Intron Variant
ANK3 transcript variant X32	XM_017016127.1:c.	N/A	Intron Variant
ANK3 transcript variant X35	XM_017016128.1:c.	N/A	Intron Variant
ANK3 transcript variant X36	XM_017016129.1:c.	N/A	Intron Variant
ANK3 transcript variant X39	XM_017016130.1:c.	N/A	Intron Variant
ANK3 transcript variant X40	XM_017016131.1:c.	N/A	Intron Variant
ANK3 transcript variant X41	XM_017016132.1:c.	N/A	Intron Variant
ANK3 transcript variant X29	XM_017016133.1:c.	N/A	Intron Variant
ANK3 transcript variant X42	XM_017016134.1:c.	N/A	Intron Variant
ANK3 transcript variant X31	XM_017016135.1:c.	N/A	Intron Variant
ANK3 transcript variant X43	XM_017016136.1:c.	N/A	Intron Variant
ANK3 transcript variant X44	XM_017016137.1:c.	N/A	Intron Variant
ANK3 transcript variant X45	XM_017016138.1:c.	N/A	Intron Variant
ANK3 transcript variant X35	XM_017016139.1:c.	N/A	Intron Variant
ANK3 transcript variant X36	XM_017016140.1:c.	N/A	Intron Variant
ANK3 transcript variant X46	XM_017016141.1:c.	N/A	Intron Variant
ANK3 transcript variant X38	XM_017016142.1:c.	N/A	Intron Variant
ANK3 transcript variant X39	XM_017016143.1:c.	N/A	Intron Variant
ANK3 transcript variant X40	XM_017016144.1:c.	N/A	Intron Variant
ANK3 transcript variant X41	XM_017016145.1:c.	N/A	Intron Variant
ANK3 transcript variant X42	XM_017016146.1:c.	N/A	Intron Variant
ANK3 transcript variant X43	XM_017016147.1:c.	N/A	Intron Variant
ANK3 transcript variant X44	XM_017016148.1:c.	N/A	Intron Variant
ANK3 transcript variant X45	XM_017016149.1:c.	N/A	Intron Variant
ANK3 transcript variant X46	XM_017016150.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.941	T=0.059
1000Genomes	American	Sub	694	C=0.850	T=0.150
1000Genomes	East Asian	Sub	1008	C=0.793	T=0.207
1000Genomes	Europe	Sub	1006	C=0.954	T=0.046
1000Genomes	Global	Study-wide	5008	C=0.885	T=0.115
1000Genomes	South Asian	Sub	978	C=0.860	T=0.140
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.947	T=0.053
The Genome Aggregation Database	African	Sub	8728	C=0.940	T=0.060
The Genome Aggregation Database	American	Sub	834	C=0.840	T=0.160
The Genome Aggregation Database	East Asian	Sub	1598	C=0.786	T=0.214
The Genome Aggregation Database	Europe	Sub	18470	C=0.941	T=0.058
The Genome Aggregation Database	Global	Study-wide	29932	C=0.929	T=0.070
The Genome Aggregation Database	Other	Sub	302	C=0.910	T=0.090
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.938	T=0.062
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.961	T=0.039

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs10821687	0.000981	nicotine smoking	19268276

eQTL of rs10821687 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 rs10821687 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 )
chr10	61859613	61859810	E067	-42390
chr10	61859853	61859988	E067	-42212
chr10	61908637	61908707	E067	6437
chr10	61908778	61909030	E067	6578
chr10	61914951	61915001	E067	12751
chr10	61915101	61915169	E067	12901
chr10	61915409	61915508	E067	13209
chr10	61915781	61916017	E067	13581
chr10	61916165	61916215	E067	13965
chr10	61916252	61916320	E067	14052
chr10	61916454	61916525	E067	14254
chr10	61916658	61916723	E067	14458
chr10	61923686	61923895	E067	21486
chr10	61926721	61926780	E067	24521
chr10	61931978	61932682	E067	29778
chr10	61942828	61942931	E067	40628
chr10	61944650	61944752	E067	42450
chr10	61946153	61946827	E067	43953
chr10	61882840	61883762	E068	-18438
chr10	61908637	61908707	E068	6437
chr10	61931277	61931533	E068	29077
chr10	61931978	61932682	E068	29778
chr10	61942256	61942455	E068	40056
chr10	61942591	61942696	E068	40391
chr10	61945256	61945525	E068	43056
chr10	61945589	61945860	E068	43389
chr10	61946153	61946827	E068	43953
chr10	61882840	61883762	E069	-18438
chr10	61914951	61915001	E069	12751
chr10	61915101	61915169	E069	12901
chr10	61915409	61915508	E069	13209
chr10	61915781	61916017	E069	13581
chr10	61916165	61916215	E069	13965
chr10	61916252	61916320	E069	14052
chr10	61916454	61916525	E069	14254
chr10	61916658	61916723	E069	14458
chr10	61923686	61923895	E069	21486
chr10	61931978	61932682	E069	29778
chr10	61942591	61942696	E069	40391
chr10	61942828	61942931	E069	40628
chr10	61946153	61946827	E069	43953
chr10	61923127	61923167	E070	20927
chr10	61923686	61923895	E070	21486
chr10	61859560	61859610	E071	-42590
chr10	61859613	61859810	E071	-42390
chr10	61859853	61859988	E071	-42212
chr10	61874501	61874945	E071	-27255
chr10	61875096	61875249	E071	-26951
chr10	61895364	61895538	E071	-6662
chr10	61895649	61895699	E071	-6501
chr10	61895788	61895844	E071	-6356
chr10	61895886	61895997	E071	-6203
chr10	61903753	61903803	E071	1553
chr10	61903858	61903927	E071	1658
chr10	61903928	61903978	E071	1728
chr10	61907818	61908631	E071	5618
chr10	61908637	61908707	E071	6437
chr10	61908778	61909030	E071	6578
chr10	61909108	61909148	E071	6908
chr10	61914737	61914836	E071	12537
chr10	61914951	61915001	E071	12751
chr10	61915101	61915169	E071	12901
chr10	61915409	61915508	E071	13209
chr10	61915781	61916017	E071	13581
chr10	61916165	61916215	E071	13965
chr10	61916252	61916320	E071	14052
chr10	61916454	61916525	E071	14254
chr10	61923686	61923895	E071	21486
chr10	61926721	61926780	E071	24521
chr10	61930045	61930281	E071	27845
chr10	61930384	61930492	E071	28184
chr10	61933195	61933235	E071	30995
chr10	61933241	61933315	E071	31041
chr10	61933530	61933580	E071	31330
chr10	61942591	61942696	E071	40391
chr10	61942828	61942931	E071	40628
chr10	61944650	61944752	E071	42450
chr10	61945017	61945139	E071	42817
chr10	61945256	61945525	E071	43056
chr10	61945589	61945860	E071	43389
chr10	61946153	61946827	E071	43953
chr10	61947554	61947668	E071	45354
chr10	61947703	61947774	E071	45503
chr10	61948067	61948107	E071	45867
chr10	61948337	61948643	E071	46137
chr10	61948825	61948875	E071	46625
chr10	61882840	61883762	E072	-18438
chr10	61884463	61884530	E072	-17670
chr10	61895130	61895253	E072	-6947
chr10	61895364	61895538	E072	-6662
chr10	61895649	61895699	E072	-6501
chr10	61895788	61895844	E072	-6356
chr10	61895886	61895997	E072	-6203
chr10	61901442	61901612	E072	-588
chr10	61907818	61908631	E072	5618
chr10	61908637	61908707	E072	6437
chr10	61908778	61909030	E072	6578
chr10	61909108	61909148	E072	6908
chr10	61914951	61915001	E072	12751
chr10	61915101	61915169	E072	12901
chr10	61915409	61915508	E072	13209
chr10	61915781	61916017	E072	13581
chr10	61916165	61916215	E072	13965
chr10	61916252	61916320	E072	14052
chr10	61916454	61916525	E072	14254
chr10	61931978	61932682	E072	29778
chr10	61942591	61942696	E072	40391
chr10	61942828	61942931	E072	40628
chr10	61945017	61945139	E072	42817
chr10	61945256	61945525	E072	43056
chr10	61945589	61945860	E072	43389
chr10	61946153	61946827	E072	43953
chr10	61948337	61948643	E072	46137
chr10	61948825	61948875	E072	46625
chr10	61914737	61914836	E073	12537
chr10	61914951	61915001	E073	12751
chr10	61915101	61915169	E073	12901
chr10	61915409	61915508	E073	13209
chr10	61915781	61916017	E073	13581
chr10	61942828	61942931	E073	40628
chr10	61944650	61944752	E073	42450
chr10	61945017	61945139	E073	42817
chr10	61945256	61945525	E073	43056
chr10	61945589	61945860	E073	43389
chr10	61946153	61946827	E073	43953
chr10	61859853	61859988	E074	-42212
chr10	61914737	61914836	E074	12537
chr10	61914951	61915001	E074	12751
chr10	61915101	61915169	E074	12901
chr10	61915409	61915508	E074	13209
chr10	61915781	61916017	E074	13581
chr10	61916165	61916215	E074	13965
chr10	61916252	61916320	E074	14052
chr10	61916454	61916525	E074	14254
chr10	61916658	61916723	E074	14458
chr10	61923686	61923895	E074	21486
chr10	61931277	61931533	E074	29077
chr10	61931978	61932682	E074	29778
chr10	61933195	61933235	E074	30995
chr10	61933241	61933315	E074	31041
chr10	61933530	61933580	E074	31330
chr10	61942256	61942455	E074	40056
chr10	61942591	61942696	E074	40391
chr10	61943970	61944022	E074	41770
chr10	61944650	61944752	E074	42450
chr10	61945017	61945139	E074	42817
chr10	61945256	61945525	E074	43056
chr10	61945589	61945860	E074	43389
chr10	61946153	61946827	E074	43953
chr10	61948067	61948107	E074	45867
chr10	61948337	61948643	E074	46137
chr10	61859853	61859988	E081	-42212
chr10	61922478	61922635	E081	20278
chr10	61922643	61922693	E081	20443
chr10	61922707	61922828	E081	20507
chr10	61926721	61926780	E081	24521
chr10	61945589	61945860	E081	43389
chr10	61946153	61946827	E081	43953
chr10	61947554	61947668	E081	45354
chr10	61947703	61947774	E081	45503
chr10	61948067	61948107	E081	45867
chr10	61948337	61948643	E081	46137
chr10	61946153	61946827	E082	43953
chr10	61947554	61947668	E082	45354
chr10	61947703	61947774	E082	45503
chr10	61948067	61948107	E082	45867
chr10	61948337	61948643	E082	46137