rs12131772

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

AK5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0128 (3838/29930,GnomAD)
G=0147 (4288/29118,TOPMED)
G=0129 (646/5008,1000G)
G=0126 (487/3854,ALSPAC)
G=0122 (454/3708,TWINSUK)

Position: chr1:77417986 (GRCh38.p7) (1p31.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 196 Enhancers around

Promoter: 3 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.77417986C>G
GRCh37.p13 chr 1	NC_000001.10:g.77883671C>G

Gene: AK5, adenylate kinase 5(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AK5 transcript variant 2	NM_012093.3:c.	N/A	Intron Variant
AK5 transcript variant 1	NM_174858.2:c.	N/A	Intron Variant
AK5 transcript variant X1	XM_005270739.4:c.	N/A	Intron Variant
AK5 transcript variant X2	XM_006710572.3:c.	N/A	Intron Variant
AK5 transcript variant X3	XM_017001008.1:c.	N/A	Intron Variant
AK5 transcript variant X4	XM_017001009.1:c.	N/A	Intron Variant
AK5 transcript variant X5	XM_017001010.1:c.	N/A	Intron Variant
AK5 transcript variant X6	XM_017001011.1:c.	N/A	Intron Variant
AK5 transcript variant X7	XM_017001012.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.869	G=0.131
1000Genomes	American	Sub	694	C=0.860	G=0.140
1000Genomes	East Asian	Sub	1008	C=0.889	G=0.111
1000Genomes	Europe	Sub	1006	C=0.855	G=0.145
1000Genomes	Global	Study-wide	5008	C=0.871	G=0.129
1000Genomes	South Asian	Sub	978	C=0.880	G=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.874	G=0.126
The Genome Aggregation Database	African	Sub	8704	C=0.860	G=0.140
The Genome Aggregation Database	American	Sub	836	C=0.860	G=0.140
The Genome Aggregation Database	East Asian	Sub	1610	C=0.887	G=0.113
The Genome Aggregation Database	Europe	Sub	18478	C=0.877	G=0.122
The Genome Aggregation Database	Global	Study-wide	29930	C=0.871	G=0.128
The Genome Aggregation Database	Other	Sub	302	C=0.810	G=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.852	G=0.147
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.878	G=0.122

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
rs12131772	0.000255	nicotine smoking	19268276

eQTL of rs12131772 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 rs12131772 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 )
chr1	77835708	77836115	E067	-47556
chr1	77837235	77837370	E067	-46301
chr1	77844409	77845254	E067	-38417
chr1	77854494	77854612	E067	-29059
chr1	77856768	77857042	E067	-26629
chr1	77857391	77857499	E067	-26172
chr1	77860151	77861369	E067	-22302
chr1	77862332	77862412	E067	-21259
chr1	77862597	77862672	E067	-20999
chr1	77863952	77864103	E067	-19568
chr1	77864126	77864183	E067	-19488
chr1	77864253	77864363	E067	-19308
chr1	77864842	77865837	E067	-17834
chr1	77867355	77867493	E067	-16178
chr1	77870789	77870839	E067	-12832
chr1	77871006	77871204	E067	-12467
chr1	77872282	77872332	E067	-11339
chr1	77872419	77872480	E067	-11191
chr1	77872594	77872758	E067	-10913
chr1	77903329	77903388	E067	19658
chr1	77903799	77903881	E067	20128
chr1	77930995	77931065	E067	47324
chr1	77931755	77931805	E067	48084
chr1	77932818	77933122	E067	49147
chr1	77836462	77836999	E068	-46672
chr1	77840699	77840896	E068	-42775
chr1	77841205	77841265	E068	-42406
chr1	77841315	77841445	E068	-42226
chr1	77841736	77842099	E068	-41572
chr1	77844409	77845254	E068	-38417
chr1	77854494	77854612	E068	-29059
chr1	77856768	77857042	E068	-26629
chr1	77859903	77860132	E068	-23539
chr1	77860151	77861369	E068	-22302
chr1	77862332	77862412	E068	-21259
chr1	77862597	77862672	E068	-20999
chr1	77863952	77864103	E068	-19568
chr1	77864126	77864183	E068	-19488
chr1	77864253	77864363	E068	-19308
chr1	77864842	77865837	E068	-17834
chr1	77867355	77867493	E068	-16178
chr1	77870789	77870839	E068	-12832
chr1	77871006	77871204	E068	-12467
chr1	77872282	77872332	E068	-11339
chr1	77896633	77896940	E068	12962
chr1	77897429	77897541	E068	13758
chr1	77897583	77897661	E068	13912
chr1	77897721	77897792	E068	14050
chr1	77930995	77931065	E068	47324
chr1	77931755	77931805	E068	48084
chr1	77932818	77933122	E068	49147
chr1	77834157	77834236	E069	-49435
chr1	77835525	77835599	E069	-48072
chr1	77835708	77836115	E069	-47556
chr1	77836462	77836999	E069	-46672
chr1	77841205	77841265	E069	-42406
chr1	77841315	77841445	E069	-42226
chr1	77841736	77842099	E069	-41572
chr1	77844280	77844340	E069	-39331
chr1	77844409	77845254	E069	-38417
chr1	77851395	77851488	E069	-32183
chr1	77854494	77854612	E069	-29059
chr1	77856768	77857042	E069	-26629
chr1	77857391	77857499	E069	-26172
chr1	77859903	77860132	E069	-23539
chr1	77860151	77861369	E069	-22302
chr1	77862332	77862412	E069	-21259
chr1	77862597	77862672	E069	-20999
chr1	77863952	77864103	E069	-19568
chr1	77864126	77864183	E069	-19488
chr1	77864253	77864363	E069	-19308
chr1	77864842	77865837	E069	-17834
chr1	77866546	77866778	E069	-16893
chr1	77867355	77867493	E069	-16178
chr1	77870789	77870839	E069	-12832
chr1	77871006	77871204	E069	-12467
chr1	77872282	77872332	E069	-11339
chr1	77872419	77872480	E069	-11191
chr1	77872594	77872758	E069	-10913
chr1	77903329	77903388	E069	19658
chr1	77903799	77903881	E069	20128
chr1	77903955	77904005	E069	20284
chr1	77930995	77931065	E069	47324
chr1	77931755	77931805	E069	48084
chr1	77932818	77933122	E069	49147
chr1	77864253	77864363	E070	-19308
chr1	77836462	77836999	E071	-46672
chr1	77837235	77837370	E071	-46301
chr1	77840699	77840896	E071	-42775
chr1	77841205	77841265	E071	-42406
chr1	77841315	77841445	E071	-42226
chr1	77841736	77842099	E071	-41572
chr1	77844280	77844340	E071	-39331
chr1	77844409	77845254	E071	-38417
chr1	77854494	77854612	E071	-29059
chr1	77856768	77857042	E071	-26629
chr1	77857391	77857499	E071	-26172
chr1	77859903	77860132	E071	-23539
chr1	77860151	77861369	E071	-22302
chr1	77862332	77862412	E071	-21259
chr1	77862597	77862672	E071	-20999
chr1	77863952	77864103	E071	-19568
chr1	77864126	77864183	E071	-19488
chr1	77864253	77864363	E071	-19308
chr1	77864842	77865837	E071	-17834
chr1	77866546	77866778	E071	-16893
chr1	77870789	77870839	E071	-12832
chr1	77871006	77871204	E071	-12467
chr1	77872282	77872332	E071	-11339
chr1	77872419	77872480	E071	-11191
chr1	77872594	77872758	E071	-10913
chr1	77877914	77878012	E071	-5659
chr1	77878087	77878174	E071	-5497
chr1	77878182	77878432	E071	-5239
chr1	77878559	77878761	E071	-4910
chr1	77878833	77879078	E071	-4593
chr1	77879318	77879596	E071	-4075
chr1	77903799	77903881	E071	20128
chr1	77903955	77904005	E071	20284
chr1	77904024	77904291	E071	20353
chr1	77930995	77931065	E071	47324
chr1	77931755	77931805	E071	48084
chr1	77932818	77933122	E071	49147
chr1	77834157	77834236	E072	-49435
chr1	77835708	77836115	E072	-47556
chr1	77836462	77836999	E072	-46672
chr1	77844409	77845254	E072	-38417
chr1	77854494	77854612	E072	-29059
chr1	77856768	77857042	E072	-26629
chr1	77857391	77857499	E072	-26172
chr1	77859903	77860132	E072	-23539
chr1	77862332	77862412	E072	-21259
chr1	77862597	77862672	E072	-20999
chr1	77863952	77864103	E072	-19568
chr1	77864126	77864183	E072	-19488
chr1	77864253	77864363	E072	-19308
chr1	77864842	77865837	E072	-17834
chr1	77866546	77866778	E072	-16893
chr1	77871006	77871204	E072	-12467
chr1	77872282	77872332	E072	-11339
chr1	77872419	77872480	E072	-11191
chr1	77872594	77872758	E072	-10913
chr1	77878559	77878761	E072	-4910
chr1	77878833	77879078	E072	-4593
chr1	77887286	77887463	E072	3615
chr1	77887520	77887599	E072	3849
chr1	77889993	77890220	E072	6322
chr1	77931755	77931805	E072	48084
chr1	77932818	77933122	E072	49147
chr1	77840699	77840896	E073	-42775
chr1	77844409	77845254	E073	-38417
chr1	77860151	77861369	E073	-22302
chr1	77862332	77862412	E073	-21259
chr1	77862597	77862672	E073	-20999
chr1	77863952	77864103	E073	-19568
chr1	77864126	77864183	E073	-19488
chr1	77864253	77864363	E073	-19308
chr1	77864842	77865837	E073	-17834
chr1	77866546	77866778	E073	-16893
chr1	77931755	77931805	E073	48084
chr1	77932818	77933122	E073	49147
chr1	77834157	77834236	E074	-49435
chr1	77836462	77836999	E074	-46672
chr1	77840699	77840896	E074	-42775
chr1	77841205	77841265	E074	-42406
chr1	77841315	77841445	E074	-42226
chr1	77841736	77842099	E074	-41572
chr1	77844409	77845254	E074	-38417
chr1	77851395	77851488	E074	-32183
chr1	77854494	77854612	E074	-29059
chr1	77856768	77857042	E074	-26629
chr1	77857391	77857499	E074	-26172
chr1	77859903	77860132	E074	-23539
chr1	77860151	77861369	E074	-22302
chr1	77862332	77862412	E074	-21259
chr1	77862597	77862672	E074	-20999
chr1	77863952	77864103	E074	-19568
chr1	77864126	77864183	E074	-19488
chr1	77864253	77864363	E074	-19308
chr1	77864842	77865837	E074	-17834
chr1	77867355	77867493	E074	-16178
chr1	77870789	77870839	E074	-12832
chr1	77871006	77871204	E074	-12467
chr1	77872282	77872332	E074	-11339
chr1	77872419	77872480	E074	-11191
chr1	77872594	77872758	E074	-10913
chr1	77878559	77878761	E074	-4910
chr1	77878833	77879078	E074	-4593
chr1	77879318	77879596	E074	-4075
chr1	77889993	77890220	E074	6322
chr1	77890356	77890620	E074	6685
chr1	77897583	77897661	E074	13912
chr1	77897721	77897792	E074	14050
chr1	77930995	77931065	E074	47324
chr1	77931755	77931805	E074	48084
chr1	77932818	77933122	E074	49147

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	77904344	77904478	E068	20673
chr1	77904344	77904478	E069	20673
chr1	77904344	77904478	E072	20673