rs711548

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC100130207 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0037 (1120/29982,GnomAD)
A==0057 (1685/29118,TOPMED)
A==0041 (205/5008,1000G)
A==0000 (1/3854,ALSPAC)
A==0001 (3/3708,TWINSUK)

Position: chr3:3752907 (GRCh38.p7) (3p26.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 34 Enhancers around

Promoter: 40 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.3752907A>G
GRCh37.p13 chr 3	NC_000003.11:g.3794591A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100130207 transcript variant X1	XR_001740401.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X2	XR_001740402.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X3	XR_001740403.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X4	XR_001740404.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X5	XR_001740405.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X6	XR_001740406.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X7	XR_001740407.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X8	XR_001740408.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X9	XR_001740409.1:n.	N/A	Intron Variant
LOC100130207 transcript variant X10	XR_001740410.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.147	G=0.853
1000Genomes	American	Sub	694	A=0.010	G=0.990
1000Genomes	East Asian	Sub	1008	A=0.000	G=1.000
1000Genomes	Europe	Sub	1006	A=0.001	G=0.999
1000Genomes	Global	Study-wide	5008	A=0.041	G=0.959
1000Genomes	South Asian	Sub	978	A=0.000	G=1.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.000	G=1.000
The Genome Aggregation Database	African	Sub	8722	A=0.127	G=0.873
The Genome Aggregation Database	American	Sub	838	A=0.010	G=0.990
The Genome Aggregation Database	East Asian	Sub	1618	A=0.000	G=1.000
The Genome Aggregation Database	Europe	Sub	18502	A=0.000	G=0.999
The Genome Aggregation Database	Global	Study-wide	29982	A=0.037	G=0.962
The Genome Aggregation Database	Other	Sub	302	A=0.000	G=1.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.057	G=0.942
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.001	G=0.999

PMID	Title	Author	Journal
17407593	Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs.	Uhl GR	BMC Genet

SNP ID	p-value	Traits	Study
rs711548	7E-05	nicotine dependence	17407593

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	3754794	3754887	E068	-39704
chr3	3755553	3755607	E070	-38984
chr3	3781052	3782391	E070	-12200
chr3	3782589	3782674	E070	-11917
chr3	3824401	3824479	E070	29810
chr3	3824652	3824827	E070	30061
chr3	3824943	3825168	E070	30352
chr3	3825309	3825848	E070	30718
chr3	3746576	3746721	E071	-47870
chr3	3746830	3747230	E071	-47361
chr3	3814712	3814910	E071	20121
chr3	3814712	3814910	E074	20121
chr3	3746576	3746721	E081	-47870
chr3	3746830	3747230	E081	-47361
chr3	3754794	3754887	E081	-39704
chr3	3755553	3755607	E081	-38984
chr3	3804593	3805032	E081	10002
chr3	3824205	3824361	E081	29614
chr3	3824652	3824827	E081	30061
chr3	3824943	3825168	E081	30352
chr3	3825309	3825848	E081	30718
chr3	3825889	3825955	E081	31298
chr3	3826383	3826482	E081	31792
chr3	3826760	3826965	E081	32169
chr3	3839918	3839978	E081	45327
chr3	3754794	3754887	E082	-39704
chr3	3814353	3814438	E082	19762
chr3	3814712	3814910	E082	20121
chr3	3824652	3824827	E082	30061
chr3	3824943	3825168	E082	30352
chr3	3825309	3825848	E082	30718
chr3	3825889	3825955	E082	31298
chr3	3826383	3826482	E082	31792
chr3	3826760	3826965	E082	32169

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	3840026	3840076	E067	45435
chr3	3840163	3842235	E067	45572
chr3	3842417	3843734	E067	47826
chr3	3840026	3840076	E068	45435
chr3	3840163	3842235	E068	45572
chr3	3842417	3843734	E068	47826
chr3	3843752	3844021	E068	49161
chr3	3844073	3844237	E068	49482
chr3	3840163	3842235	E069	45572
chr3	3842417	3843734	E069	47826
chr3	3843752	3844021	E069	49161
chr3	3840026	3840076	E070	45435
chr3	3840163	3842235	E070	45572
chr3	3842417	3843734	E070	47826
chr3	3843752	3844021	E070	49161
chr3	3844073	3844237	E070	49482
chr3	3840163	3842235	E071	45572
chr3	3842417	3843734	E071	47826
chr3	3843752	3844021	E071	49161
chr3	3844073	3844237	E071	49482
chr3	3840026	3840076	E072	45435
chr3	3840163	3842235	E072	45572
chr3	3842417	3843734	E072	47826
chr3	3843752	3844021	E072	49161
chr3	3840026	3840076	E073	45435
chr3	3840163	3842235	E073	45572
chr3	3842417	3843734	E073	47826
chr3	3843752	3844021	E073	49161
chr3	3840163	3842235	E074	45572
chr3	3842417	3843734	E074	47826
chr3	3843752	3844021	E074	49161
chr3	3840026	3840076	E081	45435
chr3	3840163	3842235	E081	45572
chr3	3842417	3843734	E081	47826
chr3	3843752	3844021	E081	49161
chr3	3840026	3840076	E082	45435
chr3	3840163	3842235	E082	45572
chr3	3842417	3843734	E082	47826
chr3	3843752	3844021	E082	49161
chr3	3844073	3844237	E082	49482