rs6547333

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0169 (5084/29974,GnomAD)
T=0157 (788/5008,1000G)
T=0162 (623/3854,ALSPAC)
T=0149 (552/3708,TWINSUK)

Position: chr2:80872195 (GRCh38.p7) (2p12)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 99 Enhancers around

Promoter: 85 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.80872195A>G
GRCh38.p7 chr 2	NC_000002.12:g.80872195A>T
GRCh37.p13 chr 2	NC_000002.11:g.81099320A>G
GRCh37.p13 chr 2	NC_000002.11:g.81099320A>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.819	T=0.181
1000Genomes	American	Sub	694	A=0.870	T=0.130
1000Genomes	East Asian	Sub	1008	A=0.771	T=0.229
1000Genomes	Europe	Sub	1006	A=0.873	T=0.127
1000Genomes	Global	Study-wide	5008	A=0.843	T=0.157
1000Genomes	South Asian	Sub	978	A=0.900	T=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.838	T=0.162
The Genome Aggregation Database	African	Sub	8724	A=0.837	G=0.000
The Genome Aggregation Database	American	Sub	838	A=0.840	G=0.00,
The Genome Aggregation Database	East Asian	Sub	1618	A=0.823	G=0.000
The Genome Aggregation Database	Europe	Sub	18494	A=0.826	G=0.000
The Genome Aggregation Database	Global	Study-wide	29974	A=0.830	G=0.000
The Genome Aggregation Database	Other	Sub	300	A=0.890	G=0.00,
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.851	T=0.149

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

P-Value

SNP ID	p-value	Traits	Study
rs6547333	0.000236	nicotine dependence	17158188

eQTL of rs6547333 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 rs6547333 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 )
chr2	86971274	86971342	E067	4423
chr2	86973680	86973901	E067	6829
chr2	86974045	86974653	E067	7194
chr2	86975017	86975569	E067	8166
chr2	86980649	86981097	E067	13798
chr2	86981340	86981449	E067	14489
chr2	86985656	86985787	E067	18805
chr2	86986152	86986235	E067	19301
chr2	86986278	86986328	E067	19427
chr2	86986361	86986432	E067	19510
chr2	86987917	86987957	E067	21066
chr2	86988271	86988589	E067	21420
chr2	86991862	86992161	E067	25011
chr2	86992278	86992377	E067	25427
chr2	86997087	86997215	E067	30236
chr2	86930661	86930720	E068	-36131
chr2	86931475	86932252	E068	-34599
chr2	86975017	86975569	E068	8166
chr2	86980197	86980296	E068	13346
chr2	86980649	86981097	E068	13798
chr2	86981340	86981449	E068	14489
chr2	86987701	86987755	E068	20850
chr2	86987917	86987957	E068	21066
chr2	86988271	86988589	E068	21420
chr2	86991862	86992161	E068	25011
chr2	86992278	86992377	E068	25427
chr2	87002541	87002717	E068	35690
chr2	87014930	87015243	E068	48079
chr2	87015262	87015759	E068	48411
chr2	86930661	86930720	E069	-36131
chr2	86971274	86971342	E069	4423
chr2	86971409	86971514	E069	4558
chr2	86974045	86974653	E069	7194
chr2	86975017	86975569	E069	8166
chr2	86980197	86980296	E069	13346
chr2	86980649	86981097	E069	13798
chr2	86981340	86981449	E069	14489
chr2	86987701	86987755	E069	20850
chr2	86987917	86987957	E069	21066
chr2	86988271	86988589	E069	21420
chr2	87014930	87015243	E069	48079
chr2	87015262	87015759	E069	48411
chr2	86930661	86930720	E070	-36131
chr2	86931475	86932252	E070	-34599
chr2	86985656	86985787	E070	18805
chr2	86986152	86986235	E070	19301
chr2	86986278	86986328	E070	19427
chr2	86986361	86986432	E070	19510
chr2	86930661	86930720	E071	-36131
chr2	86931475	86932252	E071	-34599
chr2	86974045	86974653	E071	7194
chr2	86975017	86975569	E071	8166
chr2	86980197	86980296	E071	13346
chr2	86980649	86981097	E071	13798
chr2	86981340	86981449	E071	14489
chr2	86985656	86985787	E071	18805
chr2	86986152	86986235	E071	19301
chr2	86986278	86986328	E071	19427
chr2	86986361	86986432	E071	19510
chr2	86987701	86987755	E071	20850
chr2	86987917	86987957	E071	21066
chr2	86988271	86988589	E071	21420
chr2	86991862	86992161	E071	25011
chr2	86992278	86992377	E071	25427
chr2	86992435	86992762	E071	25584
chr2	87014930	87015243	E071	48079
chr2	87015262	87015759	E071	48411
chr2	86930661	86930720	E072	-36131
chr2	86931475	86932252	E072	-34599
chr2	86975017	86975569	E072	8166
chr2	86980197	86980296	E072	13346
chr2	86987701	86987755	E072	20850
chr2	86987917	86987957	E072	21066
chr2	86988271	86988589	E072	21420
chr2	86931475	86932252	E073	-34599
chr2	86971274	86971342	E073	4423
chr2	86973680	86973901	E073	6829
chr2	86974045	86974653	E073	7194
chr2	86987701	86987755	E073	20850
chr2	87015262	87015759	E073	48411
chr2	86930661	86930720	E074	-36131
chr2	86930872	86931179	E074	-35672
chr2	86931475	86932252	E074	-34599
chr2	86971274	86971342	E074	4423
chr2	86974045	86974653	E074	7194
chr2	86975017	86975569	E074	8166
chr2	86980197	86980296	E074	13346
chr2	86980649	86981097	E074	13798
chr2	86987701	86987755	E074	20850
chr2	86987917	86987957	E074	21066
chr2	86988271	86988589	E074	21420
chr2	87014930	87015243	E074	48079
chr2	87015262	87015759	E074	48411
chr2	86930661	86930720	E081	-36131
chr2	86930872	86931179	E081	-35672
chr2	86931475	86932252	E081	-34599
chr2	86975017	86975569	E081	8166
chr2	86974045	86974653	E082	7194
chr2	86975017	86975569	E082	8166

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	86946772	86946954	E067	-19897
chr2	86947036	86947150	E067	-19701
chr2	86947203	86947612	E067	-19239
chr2	86947692	86947768	E067	-19083
chr2	86947805	86947986	E067	-18865
chr2	86948123	86948173	E067	-18678
chr2	86948251	86948439	E067	-18412
chr2	86948585	86948773	E067	-18078
chr2	86948856	86948900	E067	-17951
chr2	87015923	87016688	E067	49072
chr2	86946772	86946954	E068	-19897
chr2	86947036	86947150	E068	-19701
chr2	86947203	86947612	E068	-19239
chr2	86947692	86947768	E068	-19083
chr2	86947805	86947986	E068	-18865
chr2	86948123	86948173	E068	-18678
chr2	86948251	86948439	E068	-18412
chr2	86948585	86948773	E068	-18078
chr2	86948856	86948900	E068	-17951
chr2	87015923	87016688	E068	49072
chr2	86946772	86946954	E069	-19897
chr2	86947036	86947150	E069	-19701
chr2	86947203	86947612	E069	-19239
chr2	86947692	86947768	E069	-19083
chr2	86947805	86947986	E069	-18865
chr2	86948123	86948173	E069	-18678
chr2	86948251	86948439	E069	-18412
chr2	86948585	86948773	E069	-18078
chr2	86948856	86948900	E069	-17951
chr2	86946772	86946954	E070	-19897
chr2	86947036	86947150	E070	-19701
chr2	86947203	86947612	E070	-19239
chr2	86947692	86947768	E070	-19083
chr2	86947805	86947986	E070	-18865
chr2	86948123	86948173	E070	-18678
chr2	86948251	86948439	E070	-18412
chr2	86948585	86948773	E070	-18078
chr2	86946772	86946954	E071	-19897
chr2	86947036	86947150	E071	-19701
chr2	86947203	86947612	E071	-19239
chr2	86947692	86947768	E071	-19083
chr2	86947805	86947986	E071	-18865
chr2	86948123	86948173	E071	-18678
chr2	86948251	86948439	E071	-18412
chr2	86948585	86948773	E071	-18078
chr2	86948856	86948900	E071	-17951
chr2	86946772	86946954	E072	-19897
chr2	86947036	86947150	E072	-19701
chr2	86947203	86947612	E072	-19239
chr2	86947692	86947768	E072	-19083
chr2	86947805	86947986	E072	-18865
chr2	86948123	86948173	E072	-18678
chr2	86948251	86948439	E072	-18412
chr2	86948585	86948773	E072	-18078
chr2	86948856	86948900	E072	-17951
chr2	86946772	86946954	E073	-19897
chr2	86947036	86947150	E073	-19701
chr2	86947203	86947612	E073	-19239
chr2	86947692	86947768	E073	-19083
chr2	86947805	86947986	E073	-18865
chr2	86948123	86948173	E073	-18678
chr2	86948251	86948439	E073	-18412
chr2	86948585	86948773	E073	-18078
chr2	86948856	86948900	E073	-17951
chr2	86946772	86946954	E074	-19897
chr2	86947036	86947150	E074	-19701
chr2	86947203	86947612	E074	-19239
chr2	86947692	86947768	E074	-19083
chr2	86947805	86947986	E074	-18865
chr2	86948123	86948173	E074	-18678
chr2	86948251	86948439	E074	-18412
chr2	86948585	86948773	E074	-18078
chr2	86948856	86948900	E074	-17951
chr2	87015923	87016688	E074	49072
chr2	86948251	86948439	E081	-18412
chr2	86948585	86948773	E081	-18078
chr2	86946772	86946954	E082	-19897
chr2	86947036	86947150	E082	-19701
chr2	86947203	86947612	E082	-19239
chr2	86947692	86947768	E082	-19083
chr2	86947805	86947986	E082	-18865
chr2	86948123	86948173	E082	-18678
chr2	86948251	86948439	E082	-18412
chr2	86948585	86948773	E082	-18078
chr2	86948856	86948900	E082	-17951