rs1687482

Homo sapiens
T>G
UROC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0285 (8549/29898,GnomAD)
T==0324 (9445/29118,TOPMED)
T==0317 (1590/5008,1000G)
T==0179 (688/3854,ALSPAC)
T==0164 (608/3708,TWINSUK)
chr3:126496851 (GRCh38.p7) (3q21.3)
AD
GWASCatalog
1   publication(s)
See rs on genome
99 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.126496851T>G
GRCh37.p13 chr 3NC_000003.11:g.126215694T>G
UROC1 RefSeqGeneNG_016286.1:g.25901A>C

Gene: UROC1, urocanate hydratase 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
UROC1 transcript variant 2NM_001165974.1:c.N/AIntron Variant
UROC1 transcript variant 1NM_144639.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.516G=0.484
1000GenomesAmericanSub694T=0.240G=0.760
1000GenomesEast AsianSub1008T=0.312G=0.688
1000GenomesEuropeSub1006T=0.171G=0.829
1000GenomesGlobalStudy-wide5008T=0.317G=0.683
1000GenomesSouth AsianSub978T=0.260G=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.179G=0.821
The Genome Aggregation DatabaseAfricanSub8700T=0.483G=0.517
The Genome Aggregation DatabaseAmericanSub838T=0.260G=0.740
The Genome Aggregation DatabaseEast AsianSub1622T=0.320G=0.680
The Genome Aggregation DatabaseEuropeSub18436T=0.192G=0.807
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.285G=0.714
The Genome Aggregation DatabaseOtherSub302T=0.170G=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.324G=0.675
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.164G=0.836
PMID Title Author Journal
28040410A genome wide association study of fast beta EEG in families of European ancestry.Meyers JLInt J Psychophysiol

P-Value

SNP ID p-value Traits Study
rs16874828E-08alcohol dependence28040410

eQTL of rs1687482 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 rs1687482 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 )
chr3126185596126185646E067-30048
chr3126185718126185969E067-29725
chr3126212575126212625E067-3069
chr3126212708126212898E067-2796
chr3126213248126213390E067-2304
chr3126213423126213580E067-2114
chr3126185596126185646E068-30048
chr3126185718126185969E068-29725
chr3126228676126228806E06812982
chr3126228906126229236E06813212
chr3126241018126241186E06825324
chr3126241614126241714E06825920
chr3126241876126242002E06826182
chr3126185596126185646E069-30048
chr3126185718126185969E069-29725
chr3126186983126187114E069-28580
chr3126187201126187390E069-28304
chr3126212245126212300E069-3394
chr3126212374126212522E069-3172
chr3126212575126212625E069-3069
chr3126212708126212898E069-2796
chr3126213248126213390E069-2304
chr3126203790126203834E070-11860
chr3126204041126204294E070-11400
chr3126212575126212625E070-3069
chr3126212708126212898E070-2796
chr3126231839126232283E07016145
chr3126241018126241186E07025324
chr3126185205126185281E071-30413
chr3126185596126185646E071-30048
chr3126185718126185969E071-29725
chr3126205332126205549E071-10145
chr3126205570126205891E071-9803
chr3126205969126206555E071-9139
chr3126212708126212898E071-2796
chr3126213248126213390E071-2304
chr3126185596126185646E072-30048
chr3126185718126185969E072-29725
chr3126212245126212300E072-3394
chr3126212374126212522E072-3172
chr3126212575126212625E072-3069
chr3126212708126212898E072-2796
chr3126213423126213580E072-2114
chr3126228676126228806E07212982
chr3126228906126229236E07213212
chr3126240890126240991E07225196
chr3126241018126241186E07225324
chr3126175428126175482E073-40212
chr3126185205126185281E073-30413
chr3126185596126185646E073-30048
chr3126185718126185969E073-29725
chr3126212575126212625E073-3069
chr3126212708126212898E073-2796
chr3126213248126213390E073-2304
chr3126213423126213580E073-2114
chr3126240890126240991E07325196
chr3126241018126241186E07325324
chr3126228676126228806E07412982
chr3126228906126229236E07413212
chr3126184864126184993E081-30701
chr3126185093126185198E081-30496
chr3126185205126185281E081-30413
chr3126199146126199245E081-16449
chr3126199400126199445E081-16249
chr3126199794126199939E081-15755
chr3126200384126200481E081-15213
chr3126200729126200940E081-14754
chr3126200959126201100E081-14594
chr3126212245126212300E081-3394
chr3126212374126212522E081-3172
chr3126212575126212625E081-3069
chr3126212708126212898E081-2796
chr3126213248126213390E081-2304
chr3126228676126228806E08112982
chr3126228906126229236E08113212
chr3126231183126231259E08115489
chr3126231839126232283E08116145
chr3126240890126240991E08125196
chr3126241018126241186E08125324
chr3126241614126241714E08125920
chr3126241876126242002E08126182
chr3126258781126258872E08143087
chr3126261329126261428E08145635
chr3126167147126167225E082-48469
chr3126199146126199245E082-16449
chr3126199400126199445E082-16249
chr3126199794126199939E082-15755
chr3126200384126200481E082-15213
chr3126200729126200940E082-14754
chr3126200959126201100E082-14594
chr3126212575126212625E082-3069
chr3126213248126213390E082-2304
chr3126217851126218072E0822157
chr3126218195126218368E0822501
chr3126228676126228806E08212982
chr3126228906126229236E08213212
chr3126230190126230681E08214496
chr3126230914126231101E08215220
chr3126231839126232283E08216145










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3126193400126194972E067-20722
chr3126195046126195818E067-19876
chr3126242682126243725E06726988
chr3126193400126194972E068-20722
chr3126195046126195818E068-19876
chr3126242682126243725E06826988
chr3126193400126194972E069-20722
chr3126195046126195818E069-19876
chr3126242682126243725E06926988
chr3126193400126194972E070-20722
chr3126195046126195818E070-19876
chr3126242682126243725E07026988
chr3126193400126194972E071-20722
chr3126195046126195818E071-19876
chr3126242682126243725E07126988
chr3126193400126194972E072-20722
chr3126195046126195818E072-19876
chr3126242682126243725E07226988
chr3126193400126194972E073-20722
chr3126195046126195818E073-19876
chr3126242682126243725E07326988
chr3126193400126194972E074-20722
chr3126195046126195818E074-19876
chr3126193400126194972E081-20722
chr3126195046126195818E081-19876
chr3126193400126194972E082-20722
chr3126195046126195818E082-19876
chr3126242682126243725E08226988