rs6804367

Homo sapiens
C>T
FAM86JP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0133 (3994/29936,GnomAD)
T=0178 (5182/29118,TOPMED)
T=0164 (819/5008,1000G)
T=0116 (447/3854,ALSPAC)
T=0104 (387/3708,TWINSUK)
chr3:125921068 (GRCh38.p7) (3q21.2)
CD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.125921068C>T
GRCh37.p13 chr 3NC_000003.11:g.125639911C>T

Gene: FAM86JP, family with sequence similarity 86 member J, pseudogene(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM86JP transcript variant 2NR_024250.1:n.N/AIntron Variant
FAM86JP transcript variant 1NR_024251.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.685T=0.315
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.920T=0.080
1000GenomesEuropeSub1006C=0.861T=0.139
1000GenomesGlobalStudy-wide5008C=0.836T=0.164
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.884T=0.116
The Genome Aggregation DatabaseAfricanSub8702C=0.739T=0.261
The Genome Aggregation DatabaseAmericanSub838C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1622C=0.946T=0.054
The Genome Aggregation DatabaseEuropeSub18472C=0.919T=0.080
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.866T=0.133
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.822T=0.178
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.896T=0.104
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
rs68043670.000191cocaine dependence23958962

eQTL of rs6804367 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:125639911FAM86JPENSG00000171084.11C>T1.3327e-164448Cerebellum
Chr3:125639911FAM86JPENSG00000171084.11C>T3.9838e-214448Frontal_Cortex_BA9
Chr3:125639911FAM86JPENSG00000171084.11C>T3.9379e-134448Hypothalamus
Chr3:125639911FAM86JPENSG00000171084.11C>T2.0000e-274448Cortex
Chr3:125639911FAM86JPENSG00000171084.11C>T4.9769e-184448Cerebellar_Hemisphere
Chr3:125639911FAM86JPENSG00000171084.11C>T5.5250e-254448Caudate_basal_ganglia
Chr3:125639911FAM86JPENSG00000171084.11C>T1.3705e-114448Hippocampus
Chr3:125639911FAM86JPENSG00000171084.11C>T1.4218e-74448Substantia_nigra
Chr3:125639911FAM86JPENSG00000171084.11C>T5.8053e-144448Putamen_basal_ganglia
Chr3:125639911FAM86JPENSG00000171084.11C>T3.5190e-174448Anterior_cingulate_cortex
Chr3:125639911FAM86JPENSG00000171084.11C>T2.2078e-234448Nucleus_accumbens_basal_ganglia
Chr3:125639911FAM86JPENSG00000171084.11C>T6.3847e-104448Amygdala

meQTL of rs6804367 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 )
chr3125647728125647881E0677817
chr3125633318125633439E068-6472
chr3125633501125633566E068-6345
chr3125604757125604851E069-35060
chr3125647434125647502E0697523
chr3125647728125647881E0697817
chr3125604916125605289E070-34622
chr3125605357125605592E070-34319
chr3125647434125647502E0707523
chr3125647728125647881E0707817
chr3125604757125604851E071-35060
chr3125604916125605289E071-34622
chr3125605357125605592E071-34319
chr3125633318125633439E071-6472
chr3125633501125633566E071-6345
chr3125647434125647502E0717523
chr3125604757125604851E072-35060
chr3125604916125605289E072-34622
chr3125605357125605592E072-34319
chr3125633318125633439E072-6472
chr3125633501125633566E072-6345
chr3125604757125604851E081-35060
chr3125604916125605289E081-34622
chr3125605357125605592E081-34319







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3125634009125634308E067-5603
chr3125634387125634602E067-5309
chr3125634666125635863E067-4048
chr3125635916125636311E067-3600
chr3125633639125633698E068-6213
chr3125633795125633897E068-6014
chr3125634009125634308E068-5603
chr3125634387125634602E068-5309
chr3125634666125635863E068-4048
chr3125635916125636311E068-3600
chr3125634009125634308E069-5603
chr3125634387125634602E069-5309
chr3125634666125635863E069-4048
chr3125635916125636311E069-3600
chr3125633795125633897E070-6014
chr3125634009125634308E070-5603
chr3125634387125634602E070-5309
chr3125634666125635863E070-4048
chr3125635916125636311E070-3600
chr3125633639125633698E071-6213
chr3125633795125633897E071-6014
chr3125634009125634308E071-5603
chr3125634387125634602E071-5309
chr3125634666125635863E071-4048
chr3125635916125636311E071-3600
chr3125633795125633897E072-6014
chr3125634009125634308E072-5603
chr3125634387125634602E072-5309
chr3125634666125635863E072-4048
chr3125635916125636311E072-3600
chr3125634009125634308E073-5603
chr3125634387125634602E073-5309
chr3125634666125635863E073-4048
chr3125635916125636311E073-3600
chr3125634009125634308E074-5603
chr3125634387125634602E074-5309
chr3125634666125635863E074-4048
chr3125635916125636311E074-3600
chr3125634009125634308E081-5603
chr3125633639125633698E082-6213
chr3125633795125633897E082-6014
chr3125634009125634308E082-5603
chr3125634387125634602E082-5309
chr3125634666125635863E082-4048
chr3125635916125636311E082-3600