rs78109725

Homo sapiens
C>A
BPIFB4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0014 (410/29180,GnomAD)
A=0016 (79/5008,1000G)
chr20:33108365 (GRCh38.p7) (20q11.21)
CD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.33108365C>A
GRCh37.p13 chr 20NC_000020.10:g.31696171C>A

Gene: BPIFB4, BPI fold containing family B member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
BPIFB4 transcriptNM_182519.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.943A=0.057
1000GenomesAmericanSub694C=1.000A=0.000
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=1.000A=0.000
1000GenomesGlobalStudy-wide5008C=0.984A=0.016
1000GenomesSouth AsianSub978C=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8494C=0.953A=0.047
The Genome Aggregation DatabaseAmericanSub770C=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1608C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18010C=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29180C=0.985A=0.014
The Genome Aggregation DatabaseOtherSub298C=1.000A=0.000
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
rs781097258.75E-05cocaine dependence23958962

eQTL of rs78109725 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 rs78109725 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 )
chr203165018331650373E067-45798
chr203165038131650623E067-45548
chr203165038131650623E068-45548
chr203165018331650373E069-45798
chr203165038131650623E069-45548
chr203165018331650373E071-45798
chr203165038131650623E071-45548
chr203165018331650373E072-45798
chr203165038131650623E072-45548
chr203166451531664636E072-31535
chr203169185631691928E073-4243
chr203165038131650623E074-45548
chr203171834931718919E08122178
chr203165018331650373E082-45798
chr203165038131650623E082-45548
chr203171907331719169E08222902