rs3188114

Homo sapiens
G>A
SMYD5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0031 (953/29962,GnomAD)
A=0020 (587/29116,TOPMED)
A=0011 (57/5008,1000G)
A=0039 (152/3854,ALSPAC)
A=0043 (161/3708,TWINSUK)
chr2:73227128 (GRCh38.p7) (2p13.2)
ND
GWASdb2
1   publication(s)
See rs on genome
61 Enhancers around
59 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.73227128G>A
GRCh37.p13 chr 2NC_000002.11:g.73454256G>A

Gene: SMYD5, SMYD family member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SMYD5 transcriptNM_006062.2:c.N/A3 Prime UTR Variant
SMYD5 transcript variant X1XM_017003163.1:c.N/A3 Prime UTR Variant
SMYD5 transcript variant X2XM_006711918.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997A=0.003
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.968A=0.032
1000GenomesGlobalStudy-wide5008G=0.989A=0.011
1000GenomesSouth AsianSub978G=0.990A=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.961A=0.039
The Genome Aggregation DatabaseAfricanSub8722G=0.993A=0.007
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1620G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18480G=0.953A=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29962G=0.968A=0.031
The Genome Aggregation DatabaseOtherSub302G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.979A=0.020
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.957A=0.043
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
rs31881140.000193nicotine smoking19268276

eQTL of rs3188114 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 rs3188114 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 )
chr27344054873440602E067-13654
chr27344060673440666E067-13590
chr27344072673440828E067-13428
chr27347105273471623E06716796
chr27347170773471767E06717451
chr27343952873440052E068-14204
chr27344011173440163E068-14093
chr27346632173466507E06812065
chr27343952873440052E069-14204
chr27344011173440163E069-14093
chr27344022073440547E069-13709
chr27344054873440602E069-13654
chr27344060673440666E069-13590
chr27344072673440828E069-13428
chr27346321973463325E0698963
chr27347105273471623E06916796
chr27349722373497325E06942967
chr27346321973463325E0708963
chr27346386673463976E0709610
chr27346432773464435E07010071
chr27346470573464801E07010449
chr27349722373497325E07042967
chr27343952873440052E071-14204
chr27344011173440163E071-14093
chr27344022073440547E071-13709
chr27344054873440602E071-13654
chr27344060673440666E071-13590
chr27344072673440828E071-13428
chr27347105273471623E07116796
chr27343952873440052E072-14204
chr27346321973463325E0728963
chr27346386673463976E0729610
chr27346697573467178E07212719
chr27347840773478515E07224151
chr27343952873440052E073-14204
chr27344011173440163E073-14093
chr27344022073440547E073-13709
chr27344054873440602E073-13654
chr27344060673440666E073-13590
chr27344072673440828E073-13428
chr27346321973463325E0738963
chr27346386673463976E0739610
chr27346532173465532E07311065
chr27346553673465596E07311280
chr27344011173440163E074-14093
chr27344022073440547E074-13709
chr27344054873440602E074-13654
chr27344060673440666E074-13590
chr27344072673440828E074-13428
chr27346321973463325E0748963
chr27347804773478197E07423791
chr27344054873440602E081-13654
chr27344060673440666E081-13590
chr27344072673440828E081-13428
chr27347170773471767E08117451
chr27346386673463976E0829610
chr27346432773464435E08210071
chr27346470573464801E08210449
chr27346488573464935E08210629
chr27347105273471623E08216796
chr27349722373497325E08242967










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr27342917373430022E067-24234
chr27344096373441024E067-13232
chr27344108373442016E067-12240
chr27344219673442275E067-11981
chr27345957373462426E0675317
chr27349571773495830E06741461
chr27349583573496761E06741579
chr27349692273496988E06742666
chr27344096373441024E068-13232
chr27344108373442016E068-12240
chr27344219673442275E068-11981
chr27345957373462426E0685317
chr27349571773495830E06841461
chr27349583573496761E06841579
chr27349692273496988E06842666
chr27344096373441024E069-13232
chr27344108373442016E069-12240
chr27344219673442275E069-11981
chr27345957373462426E0695317
chr27349571773495830E06941461
chr27349583573496761E06941579
chr27344096373441024E070-13232
chr27344108373442016E070-12240
chr27344219673442275E070-11981
chr27345957373462426E0705317
chr27349692273496988E07042666
chr27342917373430022E071-24234
chr27344096373441024E071-13232
chr27344108373442016E071-12240
chr27344219673442275E071-11981
chr27345957373462426E0715317
chr27349583573496761E07141579
chr27349692273496988E07142666
chr27344096373441024E072-13232
chr27344108373442016E072-12240
chr27344219673442275E072-11981
chr27345957373462426E0725317
chr27343002573430496E073-23760
chr27344096373441024E073-13232
chr27344108373442016E073-12240
chr27344219673442275E073-11981
chr27345957373462426E0735317
chr27349571773495830E07341461
chr27349583573496761E07341579
chr27349692273496988E07342666
chr27344096373441024E074-13232
chr27344108373442016E074-12240
chr27345957373462426E0745317
chr27344108373442016E081-12240
chr27344219673442275E081-11981
chr27345957373462426E0815317
chr27342917373430022E082-24234
chr27343002573430496E082-23760
chr27344096373441024E082-13232
chr27344108373442016E082-12240
chr27344219673442275E082-11981
chr27345957373462426E0825317
chr27349583573496761E08241579
chr27349692273496988E08242666