rs2448363

Homo sapiens
C>T
CDK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0252 (7546/29910,GnomAD)
C==0282 (8222/29118,TOPMED)
C==0235 (1178/5008,1000G)
C==0279 (1077/3854,ALSPAC)
C==0281 (1043/3708,TWINSUK)
chr10:60790961 (GRCh38.p7) (10q21.2)
CD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
23 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.60790961C>T
GRCh37.p13 chr 10NC_000010.10:g.62550719C>T
CDK1 RefSeqGeneNG_029877.1:g.17631C>T

Gene: CDK1, cyclin-dependent kinase 1(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.334T=0.666
1000GenomesAmericanSub694C=0.220T=0.780
1000GenomesEast AsianSub1008C=0.158T=0.842
1000GenomesEuropeSub1006C=0.218T=0.782
1000GenomesGlobalStudy-wide5008C=0.235T=0.765
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.279T=0.721
The Genome Aggregation DatabaseAfricanSub8708C=0.298T=0.702
The Genome Aggregation DatabaseAmericanSub836C=0.250T=0.750
The Genome Aggregation DatabaseEast AsianSub1622C=0.147T=0.853
The Genome Aggregation DatabaseEuropeSub18442C=0.240T=0.759
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.252T=0.747
The Genome Aggregation DatabaseOtherSub302C=0.230T=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.282T=0.717
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.281T=0.719
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
rs24483630.0000177cocaine dependence23958962
rs24483630.000613cocaine dependence,AA23958962

eQTL of rs2448363 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 rs2448363 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 )
chr106256995662571077E06719237
chr106257115262571377E06720433
chr106257621462577478E06725495
chr106256110362561655E06810384
chr106256995662571077E06819237
chr106257115262571377E06820433
chr106256982362569910E06919104
chr106256995662571077E06919237
chr106257621462577478E06925495
chr106254106762541474E070-9245
chr106254149762541817E070-8902
chr106256207262562145E07011353
chr106250226162502620E071-48099
chr106256995662571077E07119237
chr106257115262571377E07120433
chr106257621462577478E07125495
chr106256995662571077E07219237
chr106257115262571377E07220433
chr106257621462577478E07225495
chr106256995662571077E07319237
chr106257115262571377E07320433
chr106257621462577478E07325495
chr106250226162502620E074-48099
chr106256982362569910E07419104
chr106256995662571077E07419237
chr106257621462577478E07425495
chr106256002962560558E0819310
chr106256059762560698E0819878
chr106257621462577478E08125495









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr106253772662539398E068-11321
chr106253772662539398E069-11321
chr106253762562537684E070-13035
chr106253772662539398E070-11321
chr106253941562539475E070-11244
chr106253953962539641E070-11078
chr106253964762539920E070-10799
chr106253992762540021E070-10698
chr106254011262540265E070-10454
chr106254030862540358E070-10361
chr106253762562537684E071-13035
chr106253772662539398E071-11321
chr106253772662539398E073-11321
chr106253772662539398E074-11321
chr106253762562537684E081-13035
chr106253762562537684E082-13035
chr106253772662539398E082-11321
chr106253941562539475E082-11244
chr106253953962539641E082-11078
chr106253964762539920E082-10799
chr106253992762540021E082-10698
chr106254011262540265E082-10454
chr106254030862540358E082-10361