rs7522847

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC107984959 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0342 (10217/29876,GnomAD)
A==0363 (10596/29118,TOPMED)
A==0370 (1855/5008,1000G)
A==0260 (1002/3854,ALSPAC)
A==0243 (902/3708,TWINSUK)

Position: chr1:54929005 (GRCh38.p7) (1p32.3)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 70 Enhancers around

Promoter: 11 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.54929005A>G
GRCh37.p13 chr 1	NC_000001.10:g.55394678A>G

Gene: LOC107984959, uncharacterized LOC107984959(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107984959 transcript variant X1	XR_001738060.1:n.	N/A	Intron Variant
LOC107984959 transcript variant X2	XR_001738061.1:n.	N/A	Intron Variant
LOC107984959 transcript variant X3	XR_001738062.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.517	G=0.483
1000Genomes	American	Sub	694	A=0.330	G=0.670
1000Genomes	East Asian	Sub	1008	A=0.484	G=0.516
1000Genomes	Europe	Sub	1006	A=0.230	G=0.770
1000Genomes	Global	Study-wide	5008	A=0.370	G=0.630
1000Genomes	South Asian	Sub	978	A=0.230	G=0.770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.260	G=0.740
The Genome Aggregation Database	African	Sub	8676	A=0.474	G=0.526
The Genome Aggregation Database	American	Sub	836	A=0.350	G=0.650
The Genome Aggregation Database	East Asian	Sub	1606	A=0.514	G=0.486
The Genome Aggregation Database	Europe	Sub	18458	A=0.265	G=0.734
The Genome Aggregation Database	Global	Study-wide	29876	A=0.342	G=0.658
The Genome Aggregation Database	Other	Sub	300	A=0.270	G=0.730
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.363	G=0.636
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.243	G=0.757

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs7522847	0.000342	cocaine dependence(AA)	23958962
rs7522847	0.000422	cocaine dependence	23958962

eQTL of rs7522847 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 rs7522847 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	55349185	55349241	E067	-45437
chr1	55349265	55349314	E067	-45364
chr1	55349428	55349873	E067	-44805
chr1	55349879	55350310	E067	-44368
chr1	55350452	55350695	E067	-43983
chr1	55350761	55350864	E067	-43814
chr1	55350967	55351141	E067	-43537
chr1	55353822	55354016	E067	-40662
chr1	55376655	55376705	E067	-17973
chr1	55415737	55416883	E067	21059
chr1	55349058	55349180	E069	-45498
chr1	55349428	55349873	E069	-44805
chr1	55349879	55350310	E069	-44368
chr1	55350452	55350695	E069	-43983
chr1	55353822	55354016	E069	-40662
chr1	55354060	55354436	E069	-40242
chr1	55415737	55416883	E069	21059
chr1	55415737	55416883	E070	21059
chr1	55431327	55432158	E070	36649
chr1	55442560	55442682	E070	47882
chr1	55349428	55349873	E071	-44805
chr1	55349879	55350310	E071	-44368
chr1	55350452	55350695	E071	-43983
chr1	55350761	55350864	E071	-43814
chr1	55350967	55351141	E071	-43537
chr1	55354060	55354436	E071	-40242
chr1	55431327	55432158	E071	36649
chr1	55438810	55439584	E071	44132
chr1	55349428	55349873	E072	-44805
chr1	55349879	55350310	E072	-44368
chr1	55350452	55350695	E072	-43983
chr1	55350761	55350864	E072	-43814
chr1	55350967	55351141	E072	-43537
chr1	55354060	55354436	E072	-40242
chr1	55376655	55376705	E072	-17973
chr1	55415737	55416883	E072	21059
chr1	55416905	55417090	E072	22227
chr1	55348860	55349006	E073	-45672
chr1	55349058	55349180	E073	-45498
chr1	55349185	55349241	E073	-45437
chr1	55349265	55349314	E073	-45364
chr1	55349428	55349873	E073	-44805
chr1	55349879	55350310	E073	-44368
chr1	55350452	55350695	E073	-43983
chr1	55350761	55350864	E073	-43814
chr1	55353822	55354016	E073	-40662
chr1	55415737	55416883	E073	21059
chr1	55416905	55417090	E073	22227
chr1	55348860	55349006	E074	-45672
chr1	55349058	55349180	E074	-45498
chr1	55349185	55349241	E074	-45437
chr1	55349265	55349314	E074	-45364
chr1	55349428	55349873	E074	-44805
chr1	55349879	55350310	E074	-44368
chr1	55350452	55350695	E074	-43983
chr1	55350761	55350864	E074	-43814
chr1	55350967	55351141	E074	-43537
chr1	55353822	55354016	E074	-40662
chr1	55415737	55416883	E074	21059
chr1	55416905	55417090	E074	22227
chr1	55349185	55349241	E081	-45437
chr1	55349265	55349314	E081	-45364
chr1	55349428	55349873	E081	-44805
chr1	55349879	55350310	E081	-44368
chr1	55350452	55350695	E081	-43983
chr1	55350761	55350864	E081	-43814
chr1	55350967	55351141	E081	-43537
chr1	55353822	55354016	E081	-40662
chr1	55415737	55416883	E081	21059
chr1	55431327	55432158	E082	36649

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	55352041	55353759	E067	-40919
chr1	55352041	55353759	E068	-40919
chr1	55352041	55353759	E069	-40919
chr1	55352041	55353759	E070	-40919
chr1	55352041	55353759	E071	-40919
chr1	55352041	55353759	E072	-40919
chr1	55376906	55376956	E072	-17722
chr1	55352041	55353759	E073	-40919
chr1	55352041	55353759	E074	-40919
chr1	55352041	55353759	E081	-40919
chr1	55352041	55353759	E082	-40919