rs17134615

Homo sapiens
T>C
SDK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0162 (4851/29890,GnomAD)
C=0194 (5650/29118,TOPMED)
C=0161 (808/5008,1000G)
C=0127 (489/3854,ALSPAC)
C=0126 (469/3708,TWINSUK)
chr7:4209049 (GRCh38.p7) (7p22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.4209049T>C
GRCh37.p13 chr 7NC_000007.13:g.4248681T>C

Gene: SDK1, sidekick cell adhesion molecule 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SDK1 transcript variant 2NM_001079653.1:c.N/AIntron Variant
SDK1 transcript variant 1NM_152744.3:c.N/AIntron Variant
SDK1 transcript variant X4XM_011515188.1:c.N/AIntron Variant
SDK1 transcript variant X5XM_011515189.1:c.N/AIntron Variant
SDK1 transcript variant X6XM_011515190.1:c.N/AIntron Variant
SDK1 transcript variant X1XM_017011837.1:c.N/AIntron Variant
SDK1 transcript variant X7XM_017011838.1:c.N/AGenic Downstream Transcript Variant
SDK1 transcript variant X8XM_017011839.1:c.N/AGenic Downstream Transcript Variant
SDK1 transcript variant X9XM_017011840.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.734C=0.266
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.984C=0.016
1000GenomesEuropeSub1006T=0.864C=0.136
1000GenomesGlobalStudy-wide5008T=0.839C=0.161
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.873C=0.127
The Genome Aggregation DatabaseAfricanSub8692T=0.762C=0.238
The Genome Aggregation DatabaseAmericanSub838T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1620T=0.984C=0.016
The Genome Aggregation DatabaseEuropeSub18438T=0.860C=0.139
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.837C=0.162
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.806C=0.194
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.874C=0.126
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs171346150.000837nicotine smoking19268276

eQTL of rs17134615 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 rs17134615 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 )
chr742678304267880E06719149
chr742679574268007E06719276
chr742295684230056E068-18625
chr742880884288148E06839407
chr742883024288356E06839621
chr742284914229225E069-19456
chr742678304267880E06919149
chr742679574268007E06919276
chr742284914229225E070-19456
chr742295684230056E070-18625
chr742301744230272E070-18409
chr742302934230471E070-18210
chr742306844230724E070-17957
chr742654484265502E07016767
chr742655124265562E07016831
chr742660934266460E07017412
chr742665994266649E07017918
chr742678304267880E07019149
chr742679574268007E07019276
chr742284914229225E071-19456
chr742971184297354E07148437
chr742032904203385E073-45296
chr742974314297573E07348750
chr742284914229225E074-19456
chr742284914229225E081-19456
chr742295684230056E081-18625
chr742301744230272E081-18409
chr742302934230471E081-18210
chr742306844230724E081-17957
chr742308654231020E081-17661
chr742312654231315E081-17366
chr742313534231433E081-17248
chr742315164231674E081-17007
chr742317234231967E081-16714
chr742425194242631E081-6050
chr742428154242997E081-5684
chr742430894243139E081-5542
chr742432044243541E081-5140
chr742437984243906E081-4775
chr742439544244412E081-4269
chr742654484265502E08116767
chr742655124265562E08116831
chr742660934266460E08117412
chr742665994266649E08117918
chr742678304267880E08119149
chr742679574268007E08119276
chr742680794268142E08119398
chr742685394268661E08119858
chr742688584268936E08120177
chr742971184297354E08148437
chr742974314297573E08148750
chr742295684230056E082-18625
chr742301744230272E082-18409
chr742302934230471E082-18210
chr742432044243541E082-5140
chr742437984243906E082-4775
chr742660934266460E08217412
chr742665994266649E08217918









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr742884364288507E06739755
chr742444304244671E070-4010