rs2237361

Homo sapiens
T>C / T>G
CREB5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0492 (14747/29930,GnomAD)
T==0410 (11963/29118,TOPMED)
T==0500 (2503/5008,1000G)
C=0423 (1629/3854,ALSPAC)
C=0440 (1633/3708,TWINSUK)
chr7:28792680 (GRCh38.p7) (7p15.1)
ND
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.28792680T>C
GRCh38.p7 chr 7NC_000007.14:g.28792680T>G
GRCh37.p13 chr 7NC_000007.13:g.28832297T>C
GRCh37.p13 chr 7NC_000007.13:g.28832297T>G

Gene: CREB5, cAMP responsive element binding protein 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CREB5 transcript variant 4NM_001011666.2:c.N/AIntron Variant
CREB5 transcript variant 2NM_004904.3:c.N/AIntron Variant
CREB5 transcript variant 1NM_182898.3:c.N/AIntron Variant
CREB5 transcript variant 3NM_182899.4:c.N/AIntron Variant
CREB5 transcript variant X4XM_005249906.1:c.N/AIntron Variant
CREB5 transcript variant X1XM_017012806.1:c.N/AIntron Variant
CREB5 transcript variant X2XM_017012807.1:c.N/AIntron Variant
CREB5 transcript variant X3XM_017012808.1:c.N/AIntron Variant
CREB5 transcript variant X5XM_017012809.1:c.N/AIntron Variant
CREB5 transcript variant X7XM_017012810.1:c.N/AIntron Variant
CREB5 transcript variant X9XM_011515618.2:c.N/AGenic Downstream Transcript Variant
CREB5 transcript variant X7XR_001744893.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.156C=0.844
1000GenomesAmericanSub694T=0.540C=0.460
1000GenomesEast AsianSub1008T=0.738C=0.262
1000GenomesEuropeSub1006T=0.588C=0.412
1000GenomesGlobalStudy-wide5008T=0.500C=0.500
1000GenomesSouth AsianSub978T=0.600C=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.577C=0.423
The Genome Aggregation DatabaseAfricanSub8708T=0.202C=0.797
The Genome Aggregation DatabaseAmericanSub836T=0.540C=0.46,
The Genome Aggregation DatabaseEast AsianSub1618T=0.721C=0.279
The Genome Aggregation DatabaseEuropeSub18466T=0.607C=0.392
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.492C=0.507
The Genome Aggregation DatabaseOtherSub302T=0.470C=0.53,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.410C=0.589
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.560C=0.440
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
24376627How genome-wide SNP-SNP interactions relate to nasopharyngeal carcinoma susceptibility.Su WHPLoS One

P-Value

SNP ID p-value Traits Study
rs22373610.000986nicotine smoking19268276

eQTL of rs2237361 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 rs2237361 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr76460189264601985E067-42220
chr76460124964601304E068-42901
chr76460138764601437E068-42768
chr76460154364601598E068-42607
chr76460189264601985E068-42220
chr76460124964601304E070-42901
chr76460138764601437E070-42768
chr76460154364601598E070-42607
chr76460189264601985E070-42220
chr76460124964601304E071-42901
chr76460138764601437E071-42768
chr76460154364601598E071-42607
chr76460189264601985E071-42220
chr76460189264601985E073-42220
chr76460124964601304E082-42901
chr76460138764601437E082-42768
chr76460154364601598E082-42607