rs744383

Homo sapiens
T>C
CDK1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0222 (6653/29936,GnomAD)
T==0246 (7165/29118,TOPMED)
T==0215 (1079/5008,1000G)
T==0249 (959/3854,ALSPAC)
T==0242 (899/3708,TWINSUK)
chr10:60777020 (GRCh38.p7) (10q21.2)
CD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.60777020T>C
GRCh37.p13 chr 10NC_000010.10:g.62536778T>C
CDK1 RefSeqGeneNG_029877.1:g.3690T>C

Gene: CDK1, cyclin-dependent kinase 1(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
CDK1 transcript variant 4NM_001170406.1:c.N/AUpstream Transcript Variant
CDK1 transcript variant 5NM_001170407.1:c.N/AUpstream Transcript Variant
CDK1 transcript variant 6NM_001320918.1:c.N/AUpstream Transcript Variant
CDK1 transcript variant 1NM_001786.4:c.N/AUpstream Transcript Variant
CDK1 transcript variant 2NM_033379.4:c.N/AUpstream Transcript Variant
CDK1 transcript variant X1XM_005270303.3:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.313C=0.687
1000GenomesAmericanSub694T=0.200C=0.800
1000GenomesEast AsianSub1008T=0.152C=0.848
1000GenomesEuropeSub1006T=0.193C=0.807
1000GenomesGlobalStudy-wide5008T=0.215C=0.785
1000GenomesSouth AsianSub978T=0.180C=0.820
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.249C=0.751
The Genome Aggregation DatabaseAfricanSub8714T=0.269C=0.731
The Genome Aggregation DatabaseAmericanSub836T=0.220C=0.780
The Genome Aggregation DatabaseEast AsianSub1616T=0.141C=0.859
The Genome Aggregation DatabaseEuropeSub18470T=0.207C=0.792
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.222C=0.777
The Genome Aggregation DatabaseOtherSub300T=0.200C=0.800
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.246C=0.753
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.242C=0.758
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
rs7443830.0002cocaine dependence23958962

eQTL of rs744383 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 rs744383 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 )
chr106256995662571077E06733178
chr106257115262571377E06734374
chr106257621462577478E06739436
chr106256110362561655E06824325
chr106256995662571077E06833178
chr106257115262571377E06834374
chr106256982362569910E06933045
chr106256995662571077E06933178
chr106257621462577478E06939436
chr106254106762541474E0704289
chr106254149762541817E0704719
chr106256207262562145E07025294
chr106250226162502620E071-34158
chr106256995662571077E07133178
chr106257115262571377E07134374
chr106257621462577478E07139436
chr106256995662571077E07233178
chr106257115262571377E07234374
chr106257621462577478E07239436
chr106256995662571077E07333178
chr106257115262571377E07334374
chr106257621462577478E07339436
chr106250226162502620E074-34158
chr106256982362569910E07433045
chr106256995662571077E07433178
chr106257621462577478E07439436
chr106256002962560558E08123251
chr106256059762560698E08123819
chr106257621462577478E08139436









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr106249086262493626E067-43152
chr106253772662539398E068948
chr106253772662539398E069948
chr106253762562537684E070847
chr106253772662539398E070948
chr106253941562539475E0702637
chr106253953962539641E0702761
chr106253964762539920E0702869
chr106253992762540021E0703149
chr106254011262540265E0703334
chr106254030862540358E0703530
chr106249086262493626E071-43152
chr106253762562537684E071847
chr106253772662539398E071948
chr106249086262493626E072-43152
chr106253772662539398E073948
chr106253772662539398E074948
chr106253762562537684E081847
chr106253762562537684E082847
chr106253772662539398E082948
chr106253941562539475E0822637
chr106253953962539641E0822761
chr106253964762539920E0822869
chr106253992762540021E0823149
chr106254011262540265E0823334
chr106254030862540358E0823530