rs74426112

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0027 (837/29972,GnomAD)
T=0043 (1258/29118,TOPMED)
T=0025 (126/5008,1000G)
T=0002 (6/3854,ALSPAC)
T=0001 (4/3708,TWINSUK)
chr2:172713180 (GRCh38.p7) (2q31.1)
CD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
66 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.172713180C>T
GRCh37.p13 chr 2NC_000002.11:g.173577908C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.911T=0.089
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.998T=0.002
1000GenomesGlobalStudy-wide5008C=0.975T=0.025
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.998T=0.002
The Genome Aggregation DatabaseAfricanSub8716C=0.906T=0.094
The Genome Aggregation DatabaseAmericanSub838C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18494C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.972T=0.027
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.956T=0.043
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.999T=0.001
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
rs744261120.000279cocaine dependence23958962

eQTL of rs74426112 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 rs74426112 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 )
chr2173532484173532546E070-45362
chr2173532687173532947E070-44961
chr2173599256173599369E07021348
chr2173557677173558558E081-19350
chr2173567279173567546E081-10362
chr2173567588173567684E081-10224
chr2173567755173567818E081-10090
chr2173594804173594884E08116896
chr2173595075173595173E08117167
chr2173595203173595511E08117295
chr2173599587173599791E08121679
chr2173557356173557468E082-20440
chr2173567279173567546E082-10362
chr2173567588173567684E082-10224
chr2173567755173567818E082-10090



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2173600141173600233E06722233
chr2173600299173600389E06722391
chr2173600523173600816E06722615
chr2173600853173601097E06722945
chr2173601131173601369E06723223
chr2173601449173601514E06723541
chr2173601585173601638E06723677
chr2173601692173601753E06723784
chr2173600141173600233E06822233
chr2173600299173600389E06822391
chr2173600523173600816E06822615
chr2173600853173601097E06822945
chr2173601131173601369E06823223
chr2173601449173601514E06823541
chr2173601585173601638E06823677
chr2173601692173601753E06823784
chr2173602416173602490E06824508
chr2173600141173600233E06922233
chr2173600299173600389E06922391
chr2173601131173601369E06923223
chr2173601449173601514E06923541
chr2173601585173601638E06923677
chr2173601692173601753E06923784
chr2173602416173602490E06924508
chr2173600141173600233E07022233
chr2173600299173600389E07022391
chr2173600523173600816E07022615
chr2173600853173601097E07022945
chr2173601131173601369E07023223
chr2173601449173601514E07023541
chr2173601585173601638E07023677
chr2173601692173601753E07023784
chr2173600141173600233E07122233
chr2173600299173600389E07122391
chr2173600523173600816E07122615
chr2173600853173601097E07122945
chr2173601131173601369E07123223
chr2173601449173601514E07123541
chr2173601585173601638E07123677
chr2173600141173600233E07222233
chr2173600299173600389E07222391
chr2173600523173600816E07222615
chr2173600853173601097E07222945
chr2173601131173601369E07223223
chr2173601449173601514E07223541
chr2173601585173601638E07223677
chr2173601692173601753E07223784
chr2173600141173600233E07322233
chr2173600299173600389E07322391
chr2173600523173600816E07322615
chr2173600853173601097E07322945
chr2173601131173601369E07323223
chr2173601449173601514E07323541
chr2173601585173601638E07323677
chr2173601692173601753E07323784
chr2173602416173602490E07324508
chr2173600853173601097E07422945
chr2173601131173601369E07423223
chr2173601449173601514E08123541
chr2173600141173600233E08222233
chr2173600299173600389E08222391
chr2173600523173600816E08222615
chr2173600853173601097E08222945
chr2173601131173601369E08223223
chr2173601449173601514E08223541
chr2173601585173601638E08223677