rs2595211

Homo sapiens
T>A / T>G
PRKCE : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0214 (6431/29942,GnomAD)
G=0171 (4991/29116,TOPMED)
G=0264 (1323/5008,1000G)
chr2:45979613 (GRCh38.p7) (2p21)
ND
GWASdb2
1   publication(s)
See rs on genome
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.45979613T>A
GRCh38.p7 chr 2NC_000002.12:g.45979613T>G
GRCh37.p13 chr 2NC_000002.11:g.46206752T>A
GRCh37.p13 chr 2NC_000002.11:g.46206752T>G

Gene: PRKCE, protein kinase C epsilon(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCE transcriptNM_005400.2:c.N/AIntron Variant
PRKCE transcript variant X1XM_005264428.1:c.N/AIntron Variant
PRKCE transcript variant X14XM_005264431.3:c.N/AIntron Variant
PRKCE transcript variant X3XM_011532971.2:c.N/AIntron Variant
PRKCE transcript variant X4XM_011532975.2:c.N/AIntron Variant
PRKCE transcript variant X6XM_011532978.1:c.N/AIntron Variant
PRKCE transcript variant X10XM_011532980.2:c.N/AIntron Variant
PRKCE transcript variant X12XM_011532981.2:c.N/AIntron Variant
PRKCE transcript variant X13XM_011532982.1:c.N/AIntron Variant
PRKCE transcript variant X2XM_017004486.1:c.N/AIntron Variant
PRKCE transcript variant X5XM_017004487.1:c.N/AIntron Variant
PRKCE transcript variant X7XM_017004488.1:c.N/AIntron Variant
PRKCE transcript variant X8XM_017004489.1:c.N/AIntron Variant
PRKCE transcript variant X9XM_017004490.1:c.N/AIntron Variant
PRKCE transcript variant X11XM_017004491.1:c.N/AIntron Variant
PRKCE transcript variant X15XM_017004492.1:c.N/AIntron Variant
PRKCE transcript variant X19XM_006712050.3:c.N/AGenic Upstream Transcript Variant
PRKCE transcript variant X20XM_011532983.2:c.N/AGenic Upstream Transcript Variant
PRKCE transcript variant X19XR_001738846.1:n.N/AIntron Variant
PRKCE transcript variant X18XR_939695.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.971G=0.029
1000GenomesAmericanSub694T=0.590G=0.410
1000GenomesEast AsianSub1008T=0.408G=0.592
1000GenomesEuropeSub1006T=0.786G=0.214
1000GenomesGlobalStudy-wide5008T=0.736G=0.264
1000GenomesSouth AsianSub978T=0.800G=0.200
The Genome Aggregation DatabaseAfricanSub8722T=0.935G=0.065
The Genome Aggregation DatabaseAmericanSub838T=0.510G=0.490
The Genome Aggregation DatabaseEast AsianSub1618T=0.453G=0.547
The Genome Aggregation DatabaseEuropeSub18462T=0.755G=0.244
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.785G=0.214
The Genome Aggregation DatabaseOtherSub302T=0.840G=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.828G=0.171
PMID Title Author Journal
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs25952110.000902nicotine dependence17158188

eQTL of rs2595211 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 rs2595211 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 )
chr2130197005130197635E070-4351
chr2130248271130248515E07146285
chr2130248798130248888E07146812
chr2130185920130186058E081-15928
chr2130194530130194810E081-7176
chr2130195124130195211E081-6775
chr2130195420130195691E081-6295
chr2130195925130196610E081-5376
chr2130197005130197635E081-4351
chr2130201651130201724E081-262
chr2130202067130202132E08181
chr2130227521130227727E08125535
chr2130236485130237093E08134499
chr2130237339130237412E08135353
chr2130237562130237687E08135576
chr2130248271130248515E08146285
chr2130248798130248888E08146812
chr2130250250130250419E08148264
chr2130154789130155073E082-46913
chr2130158519130158674E082-43312
chr2130158744130158864E082-43122
chr2130185920130186058E082-15928
chr2130194530130194810E082-7176
chr2130195124130195211E082-6775
chr2130195420130195691E082-6295
chr2130195925130196610E082-5376
chr2130197005130197635E082-4351
chr2130201651130201724E082-262
chr2130202067130202132E08281
chr2130227521130227727E08225535
chr2130236485130237093E08234499
chr2130237339130237412E08235353
chr2130237562130237687E08235576
chr2130248271130248515E08246285
chr2130250250130250419E08248264




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2130201045130201125E068-861