rs34717128

Homo sapiens
T>A
JRKL-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0186 (5564/29772,GnomAD)
A=0164 (4803/29118,TOPMED)
A=0242 (1210/5008,1000G)
A=0183 (706/3854,ALSPAC)
A=0163 (603/3708,TWINSUK)
chr11:96500639 (GRCh38.p7) (11q21)
CD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.96500639T>A
GRCh37.p13 chr 11NC_000011.9:g.96233803T>A

Gene: JRKL-AS1, JRKL antisense RNA 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
JRKL-AS1 transcriptNR_047481.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.852A=0.148
1000GenomesAmericanSub694T=0.810A=0.190
1000GenomesEast AsianSub1008T=0.555A=0.445
1000GenomesEuropeSub1006T=0.825A=0.175
1000GenomesGlobalStudy-wide5008T=0.758A=0.242
1000GenomesSouth AsianSub978T=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.817A=0.183
The Genome Aggregation DatabaseAfricanSub8676T=0.848A=0.152
The Genome Aggregation DatabaseAmericanSub836T=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1606T=0.574A=0.426
The Genome Aggregation DatabaseEuropeSub18354T=0.816A=0.183
The Genome Aggregation DatabaseGlobalStudy-wide29772T=0.813A=0.186
The Genome Aggregation DatabaseOtherSub300T=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.835A=0.164
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.837A=0.163
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs347171280.0000473cocaine dependence,AA23958962
rs347171280.000117cocaine dependence23958962

eQTL of rs34717128 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 rs34717128 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 )
chr119619855696199088E070-34715
chr119619289196192941E081-40862
chr119619294896193260E081-40543
chr119619339496193783E081-40020
chr119619847096198510E081-35293
chr119619855696199088E081-34715
chr119620271196202807E081-30996
chr119620294296203299E081-30504
chr119620335996203409E081-30394
chr119619847096198510E082-35293
chr119619855696199088E082-34715



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr119619682996197401E067-36402
chr119619745396197707E067-36096
chr119619682996197401E068-36402
chr119619745396197707E068-36096
chr119619771096198378E068-35425
chr119619682996197401E069-36402
chr119619745396197707E069-36096
chr119619682996197401E071-36402
chr119619745396197707E071-36096
chr119619771096198378E071-35425
chr119619682996197401E072-36402
chr119619745396197707E072-36096
chr119619682996197401E074-36402
chr119619745396197707E074-36096
chr119619682996197401E082-36402