rs1938300

Homo sapiens
T>C
ZSWIM5 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0341 (10168/29810,GnomAD)
C=0381 (11100/29118,TOPMED)
C=0283 (1419/5008,1000G)
C=0284 (1096/3854,ALSPAC)
C=0286 (1062/3708,TWINSUK)
chr1:45207111 (GRCh38.p7) (1p34.1)
CD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.45207111T>C
GRCh37.p13 chr 1NC_000001.10:g.45672783T>C

Gene: ZSWIM5, zinc finger SWIM-type containing 5(minus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
ZSWIM5 transcriptNM_020883.1:c.N/AUpstream Transcript Variant
ZSWIM5 transcript variant X2XM_011541861.2:c.N/AUpstream Transcript Variant
ZSWIM5 transcript variant X1XM_017001913.1:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.439C=0.561
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.863C=0.137
1000GenomesEuropeSub1006T=0.737C=0.263
1000GenomesGlobalStudy-wide5008T=0.717C=0.283
1000GenomesSouth AsianSub978T=0.870C=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.716C=0.284
The Genome Aggregation DatabaseAfricanSub8672T=0.469C=0.531
The Genome Aggregation DatabaseAmericanSub838T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1618T=0.877C=0.123
The Genome Aggregation DatabaseEuropeSub18380T=0.721C=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29810T=0.658C=0.341
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.618C=0.381
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.714C=0.286
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
rs19383000.0000138cocaine dependence23958962
rs19383000.000171cocaine dependence23958962

eQTL of rs1938300 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 rs1938300 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 )
chr14566923045669309E067-3474
chr14565696245657079E068-15704
chr14566923045669309E068-3474
chr14566945945669552E068-3231
chr14563873845638798E070-33985
chr14563913145639179E070-33604
chr14567340245673444E070619
chr14566923045669309E071-3474
chr14566945945669552E071-3231
chr14566945945669552E072-3231
chr14566923045669309E073-3474
chr14566923045669309E081-3474
chr14566945945669552E081-3231







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr14567028645670378E067-2405
chr14567053945670634E067-2149
chr14567069545672793E0670
chr14567028645670378E068-2405
chr14567053945670634E068-2149
chr14567069545672793E0680
chr14567028645670378E069-2405
chr14567053945670634E069-2149
chr14567069545672793E0690
chr14567028645670378E070-2405
chr14567053945670634E070-2149
chr14567069545672793E0700
chr14567028645670378E071-2405
chr14567053945670634E071-2149
chr14567069545672793E0710
chr14567028645670378E072-2405
chr14567053945670634E072-2149
chr14567069545672793E0720
chr14567028645670378E073-2405
chr14567053945670634E073-2149
chr14567069545672793E0730
chr14567053945670634E074-2149
chr14567069545672793E0740
chr14567028645670378E081-2405
chr14567053945670634E081-2149
chr14567069545672793E0810
chr14567028645670378E082-2405
chr14567053945670634E082-2149
chr14567069545672793E0820