rs17367186

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

ANKS1B : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0146 (4397/29998,GnomAD)
G=0127 (3720/29118,TOPMED)
G=0130 (652/5008,1000G)
G=0219 (844/3854,ALSPAC)
G=0214 (794/3708,TWINSUK)

Position: chr12:99126816 (GRCh38.p7) (12q23.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 109 Enhancers around

Promoter: 64 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.99126816T>G
GRCh37.p13 chr 12	NC_000012.11:g.99520594T>G
ANKS1B RefSeqGene	NG_029860.1:g.862839A>C

Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKS1B transcript variant 5	NM_001204066.1:c.	N/A	Intron Variant
ANKS1B transcript variant 6	NM_001204067.1:c.	N/A	Intron Variant
ANKS1B transcript variant 7	NM_001204068.1:c.	N/A	Intron Variant
ANKS1B transcript variant 8	NM_001204069.1:c.	N/A	Intron Variant
ANKS1B transcript variant 9	NM_001204070.1:c.	N/A	Intron Variant
ANKS1B transcript variant 3	NM_020140.3:c.	N/A	Intron Variant
ANKS1B transcript variant 1	NM_152788.4:c.	N/A	Intron Variant
ANKS1B transcript variant 2	NM_181670.3:c.	N/A	Intron Variant
ANKS1B transcript variant 4	NM_001204065.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 10	NM_001204079.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 11	NM_001204080.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 12	NM_001204081.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X9	XM_005269028.4:c.	N/A	Intron Variant
ANKS1B transcript variant X13	XM_005269029.4:c.	N/A	Intron Variant
ANKS1B transcript variant X2	XM_006719504.3:c.	N/A	Intron Variant
ANKS1B transcript variant X3	XM_006719505.3:c.	N/A	Intron Variant
ANKS1B transcript variant X4	XM_006719506.3:c.	N/A	Intron Variant
ANKS1B transcript variant X6	XM_006719507.3:c.	N/A	Intron Variant
ANKS1B transcript variant X10	XM_006719508.3:c.	N/A	Intron Variant
ANKS1B transcript variant X11	XM_006719509.3:c.	N/A	Intron Variant
ANKS1B transcript variant X16	XM_006719510.3:c.	N/A	Intron Variant
ANKS1B transcript variant X18	XM_006719512.3:c.	N/A	Intron Variant
ANKS1B transcript variant X19	XM_006719513.3:c.	N/A	Intron Variant
ANKS1B transcript variant X21	XM_006719514.3:c.	N/A	Intron Variant
ANKS1B transcript variant X14	XM_011538571.2:c.	N/A	Intron Variant
ANKS1B transcript variant X1	XM_017019651.1:c.	N/A	Intron Variant
ANKS1B transcript variant X5	XM_017019652.1:c.	N/A	Intron Variant
ANKS1B transcript variant X7	XM_017019653.1:c.	N/A	Intron Variant
ANKS1B transcript variant X8	XM_017019654.1:c.	N/A	Intron Variant
ANKS1B transcript variant X12	XM_017019655.1:c.	N/A	Intron Variant
ANKS1B transcript variant X15	XM_017019656.1:c.	N/A	Intron Variant
ANKS1B transcript variant X17	XM_017019657.1:c.	N/A	Intron Variant
ANKS1B transcript variant X20	XM_017019658.1:c.	N/A	Intron Variant
ANKS1B transcript variant X23	XM_017019659.1:c.	N/A	Intron Variant
ANKS1B transcript variant X24	XM_017019660.1:c.	N/A	Intron Variant
ANKS1B transcript variant X25	XM_017019661.1:c.	N/A	Intron Variant
ANKS1B transcript variant X26	XM_017019662.1:c.	N/A	Intron Variant
ANKS1B transcript variant X27	XM_017019663.1:c.	N/A	Intron Variant
ANKS1B transcript variant X28	XM_017019664.1:c.	N/A	Intron Variant
ANKS1B transcript variant X29	XM_017019665.1:c.	N/A	Intron Variant
ANKS1B transcript variant X30	XM_005269032.3:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X22	XR_001748815.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.973	G=0.027
1000Genomes	American	Sub	694	T=0.890	G=0.110
1000Genomes	East Asian	Sub	1008	T=0.975	G=0.025
1000Genomes	Europe	Sub	1006	T=0.772	G=0.228
1000Genomes	Global	Study-wide	5008	T=0.870	G=0.130
1000Genomes	South Asian	Sub	978	T=0.710	G=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.781	G=0.219
The Genome Aggregation Database	African	Sub	8736	T=0.943	G=0.057
The Genome Aggregation Database	American	Sub	836	T=0.900	G=0.100
The Genome Aggregation Database	East Asian	Sub	1618	T=0.979	G=0.021
The Genome Aggregation Database	Europe	Sub	18506	T=0.799	G=0.201
The Genome Aggregation Database	Global	Study-wide	29998	T=0.853	G=0.146
The Genome Aggregation Database	Other	Sub	302	T=0.800	G=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.872	G=0.127
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.786	G=0.214

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs17367186	0.00052	alcohol dependence	20201924

eQTL of rs17367186 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 rs17367186 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 )
chr12	99481054	99481411	E067	-39183
chr12	99481542	99481685	E067	-38909
chr12	99505857	99506040	E067	-14554
chr12	99524722	99524838	E067	4128
chr12	99524932	99525071	E067	4338
chr12	99525092	99525207	E067	4498
chr12	99525252	99525317	E067	4658
chr12	99481054	99481411	E068	-39183
chr12	99501653	99501870	E068	-18724
chr12	99502008	99502058	E068	-18536
chr12	99502093	99502143	E068	-18451
chr12	99502685	99502750	E068	-17844
chr12	99502751	99502805	E068	-17789
chr12	99512694	99512777	E068	-7817
chr12	99513459	99513509	E068	-7085
chr12	99513964	99514083	E068	-6511
chr12	99524421	99524525	E068	3827
chr12	99524722	99524838	E068	4128
chr12	99524932	99525071	E068	4338
chr12	99525092	99525207	E068	4498
chr12	99525252	99525317	E068	4658
chr12	99532026	99532076	E068	11432
chr12	99532147	99532203	E068	11553
chr12	99532247	99532469	E068	11653
chr12	99541655	99541723	E068	21061
chr12	99505857	99506040	E069	-14554
chr12	99506164	99506214	E069	-14380
chr12	99506343	99506403	E069	-14191
chr12	99515218	99515671	E069	-4923
chr12	99524722	99524838	E069	4128
chr12	99524932	99525071	E069	4338
chr12	99525092	99525207	E069	4498
chr12	99525252	99525317	E069	4658
chr12	99525380	99526251	E069	4786
chr12	99480764	99481022	E070	-39572
chr12	99481054	99481411	E070	-39183
chr12	99481542	99481685	E070	-38909
chr12	99481787	99481851	E070	-38743
chr12	99482073	99482124	E070	-38470
chr12	99504695	99504745	E070	-15849
chr12	99504816	99504922	E070	-15672
chr12	99505857	99506040	E070	-14554
chr12	99515218	99515671	E070	-4923
chr12	99516413	99516706	E070	-3888
chr12	99524722	99524838	E070	4128
chr12	99524932	99525071	E070	4338
chr12	99525092	99525207	E070	4498
chr12	99525252	99525317	E070	4658
chr12	99525380	99526251	E070	4786
chr12	99532026	99532076	E070	11432
chr12	99532147	99532203	E070	11553
chr12	99532247	99532469	E070	11653
chr12	99532483	99532536	E070	11889
chr12	99536563	99536693	E070	15969
chr12	99542412	99542539	E070	21818
chr12	99549913	99549976	E070	29319
chr12	99550196	99550246	E070	29602
chr12	99550334	99550413	E070	29740
chr12	99524932	99525071	E071	4338
chr12	99525092	99525207	E071	4498
chr12	99525252	99525317	E071	4658
chr12	99525380	99526251	E071	4786
chr12	99541655	99541723	E071	21061
chr12	99549469	99549519	E071	28875
chr12	99549562	99549612	E071	28968
chr12	99515218	99515671	E072	-4923
chr12	99524722	99524838	E072	4128
chr12	99524932	99525071	E072	4338
chr12	99525092	99525207	E072	4498
chr12	99525252	99525317	E072	4658
chr12	99525380	99526251	E072	4786
chr12	99541655	99541723	E072	21061
chr12	99543718	99543796	E072	23124
chr12	99481054	99481411	E073	-39183
chr12	99504695	99504745	E073	-15849
chr12	99504816	99504922	E073	-15672
chr12	99543718	99543796	E073	23124
chr12	99504155	99504258	E081	-16336
chr12	99504440	99504508	E081	-16086
chr12	99504695	99504745	E081	-15849
chr12	99504816	99504922	E081	-15672
chr12	99505857	99506040	E081	-14554
chr12	99515218	99515671	E081	-4923
chr12	99525092	99525207	E081	4498
chr12	99525252	99525317	E081	4658
chr12	99525380	99526251	E081	4786
chr12	99541655	99541723	E081	21061
chr12	99549469	99549519	E081	28875
chr12	99549562	99549612	E081	28968
chr12	99549656	99549730	E081	29062
chr12	99481054	99481411	E082	-39183
chr12	99481542	99481685	E082	-38909
chr12	99481787	99481851	E082	-38743
chr12	99482073	99482124	E082	-38470
chr12	99504155	99504258	E082	-16336
chr12	99504440	99504508	E082	-16086
chr12	99504695	99504745	E082	-15849
chr12	99504816	99504922	E082	-15672
chr12	99505857	99506040	E082	-14554
chr12	99515218	99515671	E082	-4923
chr12	99516413	99516706	E082	-3888
chr12	99524421	99524525	E082	3827
chr12	99524722	99524838	E082	4128
chr12	99524932	99525071	E082	4338
chr12	99525092	99525207	E082	4498
chr12	99525252	99525317	E082	4658
chr12	99525380	99526251	E082	4786
chr12	99542279	99542357	E082	21685
chr12	99564371	99564591	E082	43777

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	99547065	99547437	E067	26471
chr12	99547503	99547557	E067	26909
chr12	99547897	99548823	E067	27303
chr12	99548876	99548981	E067	28282
chr12	99546610	99546776	E068	26016
chr12	99546849	99546947	E068	26255
chr12	99547065	99547437	E068	26471
chr12	99547503	99547557	E068	26909
chr12	99547897	99548823	E068	27303
chr12	99548876	99548981	E068	28282
chr12	99546443	99546520	E069	25849
chr12	99546610	99546776	E069	26016
chr12	99546849	99546947	E069	26255
chr12	99547065	99547437	E069	26471
chr12	99547503	99547557	E069	26909
chr12	99547897	99548823	E069	27303
chr12	99548876	99548981	E069	28282
chr12	99545689	99545786	E070	25095
chr12	99546345	99546395	E070	25751
chr12	99546443	99546520	E070	25849
chr12	99546610	99546776	E070	26016
chr12	99546849	99546947	E070	26255
chr12	99547065	99547437	E070	26471
chr12	99547503	99547557	E070	26909
chr12	99547897	99548823	E070	27303
chr12	99548876	99548981	E070	28282
chr12	99547065	99547437	E071	26471
chr12	99547503	99547557	E071	26909
chr12	99547897	99548823	E071	27303
chr12	99548876	99548981	E071	28282
chr12	99545689	99545786	E072	25095
chr12	99546345	99546395	E072	25751
chr12	99546443	99546520	E072	25849
chr12	99546610	99546776	E072	26016
chr12	99546849	99546947	E072	26255
chr12	99547065	99547437	E072	26471
chr12	99547503	99547557	E072	26909
chr12	99547897	99548823	E072	27303
chr12	99548876	99548981	E072	28282
chr12	99546849	99546947	E073	26255
chr12	99547065	99547437	E073	26471
chr12	99547503	99547557	E073	26909
chr12	99547897	99548823	E073	27303
chr12	99548876	99548981	E073	28282
chr12	99547897	99548823	E074	27303
chr12	99548876	99548981	E074	28282
chr12	99545689	99545786	E081	25095
chr12	99546345	99546395	E081	25751
chr12	99546443	99546520	E081	25849
chr12	99546610	99546776	E081	26016
chr12	99546849	99546947	E081	26255
chr12	99547065	99547437	E081	26471
chr12	99547503	99547557	E081	26909
chr12	99547897	99548823	E081	27303
chr12	99548876	99548981	E081	28282
chr12	99545689	99545786	E082	25095
chr12	99546345	99546395	E082	25751
chr12	99546443	99546520	E082	25849
chr12	99546610	99546776	E082	26016
chr12	99546849	99546947	E082	26255
chr12	99547065	99547437	E082	26471
chr12	99547503	99547557	E082	26909
chr12	99547897	99548823	E082	27303
chr12	99548876	99548981	E082	28282