rs11693600

Homo sapiens
C>T
ARHGAP15 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0475 (14201/29868,GnomAD)
T=0451 (13134/29118,TOPMED)
T=0386 (1934/5008,1000G)
C==0409 (1576/3854,ALSPAC)
C==0416 (1544/3708,TWINSUK)
chr2:143622973 (GRCh38.p7) (2q22.3)
ND
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.143622973C>T
GRCh37.p13 chr 2NC_000002.11:g.144380542C>T

Gene: ARHGAP15, Rho GTPase activating protein 15(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGAP15 transcriptNM_018460.3:c.N/AIntron Variant
ARHGAP15 transcript variant X1XM_011511479.2:c.N/AIntron Variant
ARHGAP15 transcript variant X4XM_011511481.2:c.N/AIntron Variant
ARHGAP15 transcript variant X6XM_011511482.2:c.N/AIntron Variant
ARHGAP15 transcript variant X7XM_011511483.1:c.N/AIntron Variant
ARHGAP15 transcript variant X2XM_017004499.1:c.N/AIntron Variant
ARHGAP15 transcript variant X5XM_017004500.1:c.N/AIntron Variant
ARHGAP15 transcript variant X8XM_011511484.1:c.N/AGenic Downstream Transcript Variant
ARHGAP15 transcript variant X9XM_017004501.1:c.N/AGenic Downstream Transcript Variant
ARHGAP15 transcript variant X3XR_001738850.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.723T=0.277
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.746T=0.254
1000GenomesEuropeSub1006C=0.439T=0.561
1000GenomesGlobalStudy-wide5008C=0.614T=0.386
1000GenomesSouth AsianSub978C=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.409T=0.591
The Genome Aggregation DatabaseAfricanSub8686C=0.674T=0.326
The Genome Aggregation DatabaseAmericanSub834C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1592C=0.767T=0.233
The Genome Aggregation DatabaseEuropeSub18458C=0.438T=0.561
The Genome Aggregation DatabaseGlobalStudy-wide29868C=0.524T=0.475
The Genome Aggregation DatabaseOtherSub298C=0.360T=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.548T=0.451
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.416T=0.584
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
rs116936000.000168nicotine smoking19268276

eQTL of rs11693600 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 rs11693600 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 )
chr2144338848144338943E067-41599
chr2144339162144339242E067-41300
chr2144364247144364408E067-16134
chr2144364445144364560E067-15982
chr2144364578144365887E067-14655
chr2144364578144365887E068-14655
chr2144365976144366122E068-14420
chr2144366372144366589E068-13953
chr2144379669144379749E068-793
chr2144379798144379877E068-665
chr2144381425144381532E068883
chr2144338848144338943E069-41599
chr2144339162144339242E069-41300
chr2144360726144360851E069-19691
chr2144360929144361371E069-19171
chr2144361560144361646E069-18896
chr2144361664144361772E069-18770
chr2144361831144362393E069-18149
chr2144364578144365887E069-14655
chr2144365976144366122E069-14420
chr2144366372144366589E069-13953
chr2144425969144426137E06945427
chr2144360929144361371E070-19171
chr2144361560144361646E070-18896
chr2144361664144361772E070-18770
chr2144361831144362393E070-18149
chr2144364578144365887E070-14655
chr2144365976144366122E070-14420
chr2144366372144366589E070-13953
chr2144366671144366721E070-13821
chr2144366983144367109E070-13433
chr2144379798144379877E070-665
chr2144381425144381532E070883
chr2144338848144338943E071-41599
chr2144339884144340770E071-39772
chr2144360929144361371E071-19171
chr2144364169144364232E071-16310
chr2144364247144364408E071-16134
chr2144364445144364560E071-15982
chr2144364578144365887E071-14655
chr2144372978144373512E071-7030
chr2144373803144373855E071-6687
chr2144380774144380835E071232
chr2144380988144381090E071446
chr2144381425144381532E071883
chr2144360726144360851E072-19691
chr2144361560144361646E072-18896
chr2144361664144361772E072-18770
chr2144364445144364560E072-15982
chr2144372978144373512E072-7030
chr2144379798144379877E072-665
chr2144380774144380835E072232
chr2144380988144381090E072446
chr2144381425144381532E072883
chr2144339884144340770E073-39772
chr2144338848144338943E074-41599
chr2144339162144339242E074-41300
chr2144339884144340770E074-39772
chr2144360726144360851E074-19691
chr2144360929144361371E074-19171
chr2144361560144361646E074-18896
chr2144361664144361772E074-18770
chr2144364247144364408E074-16134
chr2144364578144365887E074-14655
chr2144365976144366122E074-14420
chr2144366372144366589E074-13953
chr2144366671144366721E074-13821
chr2144366983144367109E074-13433
chr2144372978144373512E074-7030
chr2144380774144380835E074232
chr2144380988144381090E074446
chr2144356914144356965E081-23577
chr2144361560144361646E081-18896
chr2144361664144361772E081-18770
chr2144379798144379877E081-665
chr2144380988144381090E081446
chr2144381425144381532E081883
chr2144360726144360851E082-19691
chr2144361831144362393E082-18149
chr2144364169144364232E082-16310
chr2144364247144364408E082-16134










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2144339686144339844E067-40698
chr2144339686144339844E068-40698
chr2144339686144339844E069-40698
chr2144339686144339844E071-40698
chr2144339686144339844E072-40698
chr2144339686144339844E074-40698