rs10873937

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

AK5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0159 (4788/29948,GnomAD)
T=0195 (5684/29118,TOPMED)
T=0165 (828/5008,1000G)
T=0127 (488/3854,ALSPAC)
T=0124 (459/3708,TWINSUK)

Position: chr1:77414142 (GRCh38.p7) (1p31.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 177 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.77414142C>T
GRCh37.p13 chr 1	NC_000001.10:g.77879827C>T

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=0.736	T=0.264
1000Genomes	American	Sub	694	C=0.850	T=0.150
1000Genomes	East Asian	Sub	1008	C=0.889	T=0.111
1000Genomes	Europe	Sub	1006	C=0.855	T=0.145
1000Genomes	Global	Study-wide	5008	C=0.835	T=0.165
1000Genomes	South Asian	Sub	978	C=0.880	T=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.873	T=0.127
The Genome Aggregation Database	African	Sub	8706	C=0.752	T=0.248
The Genome Aggregation Database	American	Sub	838	C=0.860	T=0.140
The Genome Aggregation Database	East Asian	Sub	1612	C=0.886	T=0.114
The Genome Aggregation Database	Europe	Sub	18490	C=0.877	T=0.122
The Genome Aggregation Database	Global	Study-wide	29948	C=0.840	T=0.159
The Genome Aggregation Database	Other	Sub	302	C=0.810	T=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.804	T=0.195
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.876	T=0.124

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
rs10873937	0.000131	nicotine smoking	19268276

eQTL of rs10873937 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 rs10873937 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	-43712
chr1	77837235	77837370	E067	-42457
chr1	77844409	77845254	E067	-34573
chr1	77854494	77854612	E067	-25215
chr1	77856768	77857042	E067	-22785
chr1	77857391	77857499	E067	-22328
chr1	77860151	77861369	E067	-18458
chr1	77862332	77862412	E067	-17415
chr1	77862597	77862672	E067	-17155
chr1	77863952	77864103	E067	-15724
chr1	77864126	77864183	E067	-15644
chr1	77864253	77864363	E067	-15464
chr1	77864842	77865837	E067	-13990
chr1	77867355	77867493	E067	-12334
chr1	77870789	77870839	E067	-8988
chr1	77871006	77871204	E067	-8623
chr1	77872282	77872332	E067	-7495
chr1	77872419	77872480	E067	-7347
chr1	77872594	77872758	E067	-7069
chr1	77903329	77903388	E067	23502
chr1	77903799	77903881	E067	23972
chr1	77836462	77836999	E068	-42828
chr1	77840699	77840896	E068	-38931
chr1	77841205	77841265	E068	-38562
chr1	77841315	77841445	E068	-38382
chr1	77841736	77842099	E068	-37728
chr1	77844409	77845254	E068	-34573
chr1	77854494	77854612	E068	-25215
chr1	77856768	77857042	E068	-22785
chr1	77859903	77860132	E068	-19695
chr1	77860151	77861369	E068	-18458
chr1	77862332	77862412	E068	-17415
chr1	77862597	77862672	E068	-17155
chr1	77863952	77864103	E068	-15724
chr1	77864126	77864183	E068	-15644
chr1	77864253	77864363	E068	-15464
chr1	77864842	77865837	E068	-13990
chr1	77867355	77867493	E068	-12334
chr1	77870789	77870839	E068	-8988
chr1	77871006	77871204	E068	-8623
chr1	77872282	77872332	E068	-7495
chr1	77896633	77896940	E068	16806
chr1	77897429	77897541	E068	17602
chr1	77897583	77897661	E068	17756
chr1	77897721	77897792	E068	17894
chr1	77834157	77834236	E069	-45591
chr1	77835525	77835599	E069	-44228
chr1	77835708	77836115	E069	-43712
chr1	77836462	77836999	E069	-42828
chr1	77841205	77841265	E069	-38562
chr1	77841315	77841445	E069	-38382
chr1	77841736	77842099	E069	-37728
chr1	77844280	77844340	E069	-35487
chr1	77844409	77845254	E069	-34573
chr1	77851395	77851488	E069	-28339
chr1	77854494	77854612	E069	-25215
chr1	77856768	77857042	E069	-22785
chr1	77857391	77857499	E069	-22328
chr1	77859903	77860132	E069	-19695
chr1	77860151	77861369	E069	-18458
chr1	77862332	77862412	E069	-17415
chr1	77862597	77862672	E069	-17155
chr1	77863952	77864103	E069	-15724
chr1	77864126	77864183	E069	-15644
chr1	77864253	77864363	E069	-15464
chr1	77864842	77865837	E069	-13990
chr1	77866546	77866778	E069	-13049
chr1	77867355	77867493	E069	-12334
chr1	77870789	77870839	E069	-8988
chr1	77871006	77871204	E069	-8623
chr1	77872282	77872332	E069	-7495
chr1	77872419	77872480	E069	-7347
chr1	77872594	77872758	E069	-7069
chr1	77903329	77903388	E069	23502
chr1	77903799	77903881	E069	23972
chr1	77903955	77904005	E069	24128
chr1	77864253	77864363	E070	-15464
chr1	77836462	77836999	E071	-42828
chr1	77837235	77837370	E071	-42457
chr1	77840699	77840896	E071	-38931
chr1	77841205	77841265	E071	-38562
chr1	77841315	77841445	E071	-38382
chr1	77841736	77842099	E071	-37728
chr1	77844280	77844340	E071	-35487
chr1	77844409	77845254	E071	-34573
chr1	77854494	77854612	E071	-25215
chr1	77856768	77857042	E071	-22785
chr1	77857391	77857499	E071	-22328
chr1	77859903	77860132	E071	-19695
chr1	77860151	77861369	E071	-18458
chr1	77862332	77862412	E071	-17415
chr1	77862597	77862672	E071	-17155
chr1	77863952	77864103	E071	-15724
chr1	77864126	77864183	E071	-15644
chr1	77864253	77864363	E071	-15464
chr1	77864842	77865837	E071	-13990
chr1	77866546	77866778	E071	-13049
chr1	77870789	77870839	E071	-8988
chr1	77871006	77871204	E071	-8623
chr1	77872282	77872332	E071	-7495
chr1	77872419	77872480	E071	-7347
chr1	77872594	77872758	E071	-7069
chr1	77877914	77878012	E071	-1815
chr1	77878087	77878174	E071	-1653
chr1	77878182	77878432	E071	-1395
chr1	77878559	77878761	E071	-1066
chr1	77878833	77879078	E071	-749
chr1	77879318	77879596	E071	-231
chr1	77903799	77903881	E071	23972
chr1	77903955	77904005	E071	24128
chr1	77904024	77904291	E071	24197
chr1	77834157	77834236	E072	-45591
chr1	77835708	77836115	E072	-43712
chr1	77836462	77836999	E072	-42828
chr1	77844409	77845254	E072	-34573
chr1	77854494	77854612	E072	-25215
chr1	77856768	77857042	E072	-22785
chr1	77857391	77857499	E072	-22328
chr1	77859903	77860132	E072	-19695
chr1	77862332	77862412	E072	-17415
chr1	77862597	77862672	E072	-17155
chr1	77863952	77864103	E072	-15724
chr1	77864126	77864183	E072	-15644
chr1	77864253	77864363	E072	-15464
chr1	77864842	77865837	E072	-13990
chr1	77866546	77866778	E072	-13049
chr1	77871006	77871204	E072	-8623
chr1	77872282	77872332	E072	-7495
chr1	77872419	77872480	E072	-7347
chr1	77872594	77872758	E072	-7069
chr1	77878559	77878761	E072	-1066
chr1	77878833	77879078	E072	-749
chr1	77887286	77887463	E072	7459
chr1	77887520	77887599	E072	7693
chr1	77889993	77890220	E072	10166
chr1	77840699	77840896	E073	-38931
chr1	77844409	77845254	E073	-34573
chr1	77860151	77861369	E073	-18458
chr1	77862332	77862412	E073	-17415
chr1	77862597	77862672	E073	-17155
chr1	77863952	77864103	E073	-15724
chr1	77864126	77864183	E073	-15644
chr1	77864253	77864363	E073	-15464
chr1	77864842	77865837	E073	-13990
chr1	77866546	77866778	E073	-13049
chr1	77834157	77834236	E074	-45591
chr1	77836462	77836999	E074	-42828
chr1	77840699	77840896	E074	-38931
chr1	77841205	77841265	E074	-38562
chr1	77841315	77841445	E074	-38382
chr1	77841736	77842099	E074	-37728
chr1	77844409	77845254	E074	-34573
chr1	77851395	77851488	E074	-28339
chr1	77854494	77854612	E074	-25215
chr1	77856768	77857042	E074	-22785
chr1	77857391	77857499	E074	-22328
chr1	77859903	77860132	E074	-19695
chr1	77860151	77861369	E074	-18458
chr1	77862332	77862412	E074	-17415
chr1	77862597	77862672	E074	-17155
chr1	77863952	77864103	E074	-15724
chr1	77864126	77864183	E074	-15644
chr1	77864253	77864363	E074	-15464
chr1	77864842	77865837	E074	-13990
chr1	77867355	77867493	E074	-12334
chr1	77870789	77870839	E074	-8988
chr1	77871006	77871204	E074	-8623
chr1	77872282	77872332	E074	-7495
chr1	77872419	77872480	E074	-7347
chr1	77872594	77872758	E074	-7069
chr1	77878559	77878761	E074	-1066
chr1	77878833	77879078	E074	-749
chr1	77879318	77879596	E074	-231
chr1	77889993	77890220	E074	10166
chr1	77890356	77890620	E074	10529
chr1	77897583	77897661	E074	17756
chr1	77897721	77897792	E074	17894

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	77904344	77904478	E068	24517
chr1	77904344	77904478	E069	24517
chr1	77904344	77904478	E072	24517