rs166031

Homo sapiens
A>G
ADAMTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0250 (7457/29782,GnomAD)
G=0203 (5937/29118,TOPMED)
G=0257 (1285/5008,1000G)
G=0324 (1249/3854,ALSPAC)
G=0331 (1226/3708,TWINSUK)
chr5:179293967 (GRCh38.p7) (5q35.3)
AD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.179293967A>G
GRCh37.p13 chr 5NC_000005.9:g.178720968A>G
ADAMTS2 RefSeqGeneNG_023212.2:g.56362T>C

Gene: ADAMTS2, ADAM metallopeptidase with thrombospondin type 1 motif 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTS2 transcript variant 1NM_014244.4:c.N/AIntron Variant
ADAMTS2 transcript variant 2NM_021599.3:c.N/AIntron Variant
ADAMTS2 transcript variant X1XM_017010063.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.943G=0.057
1000GenomesAmericanSub694A=0.660G=0.340
1000GenomesEast AsianSub1008A=0.711G=0.289
1000GenomesEuropeSub1006A=0.675G=0.325
1000GenomesGlobalStudy-wide5008A=0.743G=0.257
1000GenomesSouth AsianSub978A=0.640G=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.676G=0.324
The Genome Aggregation DatabaseAfricanSub8688A=0.904G=0.096
The Genome Aggregation DatabaseAmericanSub834A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1614A=0.732G=0.268
The Genome Aggregation DatabaseEuropeSub18344A=0.684G=0.316
The Genome Aggregation DatabaseGlobalStudy-wide29782A=0.749G=0.250
The Genome Aggregation DatabaseOtherSub302A=0.690G=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.796G=0.203
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.669G=0.331
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs1660310.000544alcohol dependence24277619

eQTL of rs166031 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 rs166031 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 )
chr5178681652178681855E067-39113
chr5178692101178693289E067-27679
chr5178693301178693400E067-27568
chr5178693404178693515E067-27453
chr5178741017178741694E06720049
chr5178671765178671943E068-49025
chr5178681652178681855E068-39113
chr5178691949178692040E068-28928
chr5178693301178693400E068-27568
chr5178693404178693515E068-27453
chr5178693834178693954E068-27014
chr5178697018178697226E068-23742
chr5178697341178697419E068-23549
chr5178741017178741694E06820049
chr5178692101178693289E069-27679
chr5178693301178693400E069-27568
chr5178693404178693515E069-27453
chr5178693834178693954E069-27014
chr5178711819178712915E069-8053
chr5178741017178741694E06920049
chr5178745147178745566E06924179
chr5178745598178745659E06924630
chr5178745975178746029E06925007
chr5178746130178746202E06925162
chr5178691949178692040E070-28928
chr5178693301178693400E070-27568
chr5178693404178693515E070-27453
chr5178693834178693954E070-27014
chr5178694109178694577E070-26391
chr5178694787178694881E070-26087
chr5178694935178695062E070-25906
chr5178695066178695291E070-25677
chr5178695401178695672E070-25296
chr5178721870178722178E070902
chr5178722954178723011E0701986
chr5178741017178741694E07020049
chr5178741775178742088E07020807
chr5178744110178744202E07023142
chr5178744254178744417E07023286
chr5178744456178744516E07023488
chr5178744541178744660E07023573
chr5178744717178744790E07023749
chr5178745975178746029E07025007
chr5178746130178746202E07025162
chr5178746290178746340E07025322
chr5178746372178746422E07025404
chr5178749978178750035E07029010
chr5178750077178750303E07029109
chr5178750625178750758E07029657
chr5178750877178750982E07029909
chr5178764060178764125E07043092
chr5178681652178681855E071-39113
chr5178691949178692040E071-28928
chr5178692101178693289E071-27679
chr5178693301178693400E071-27568
chr5178693404178693515E071-27453
chr5178697018178697226E071-23742
chr5178697341178697419E071-23549
chr5178697588178698737E071-22231
chr5178741775178742088E07120807
chr5178745147178745566E07124179
chr5178745598178745659E07124630
chr5178745975178746029E07125007
chr5178681652178681855E072-39113
chr5178692101178693289E072-27679
chr5178693301178693400E072-27568
chr5178693404178693515E072-27453
chr5178693834178693954E072-27014
chr5178697588178698737E072-22231
chr5178744926178744976E07223958
chr5178745147178745566E07224179
chr5178745598178745659E07224630
chr5178745975178746029E07225007
chr5178692101178693289E073-27679
chr5178693301178693400E073-27568
chr5178693404178693515E073-27453
chr5178693834178693954E073-27014
chr5178741017178741694E07320049
chr5178741775178742088E07320807
chr5178671765178671943E074-49025
chr5178681652178681855E074-39113
chr5178692101178693289E074-27679
chr5178693301178693400E074-27568
chr5178693404178693515E074-27453
chr5178693834178693954E074-27014
chr5178769364178769433E07448396
chr5178769522178769750E07448554
chr5178691565178691609E081-29359
chr5178691949178692040E081-28928
chr5178692101178693289E081-27679
chr5178693301178693400E081-27568
chr5178693404178693515E081-27453
chr5178696413178696615E081-24353
chr5178697018178697226E081-23742
chr5178697341178697419E081-23549
chr5178697588178698737E081-22231
chr5178698790178698834E081-22134
chr5178698991178699117E081-21851
chr5178699562178699606E081-21362
chr5178721400178721455E081432
chr5178721870178722178E081902
chr5178723885178724012E0812917
chr5178724079178724138E0813111
chr5178741017178741694E08120049
chr5178741775178742088E08120807
chr5178742124178742256E08121156
chr5178742269178742414E08121301
chr5178742439178742546E08121471
chr5178744254178744417E08123286
chr5178744456178744516E08123488
chr5178744541178744660E08123573
chr5178744717178744790E08123749
chr5178744926178744976E08123958
chr5178745147178745566E08124179
chr5178745598178745659E08124630
chr5178745975178746029E08125007
chr5178746130178746202E08125162
chr5178746372178746422E08125404
chr5178749469178749670E08128501
chr5178749978178750035E08129010
chr5178750077178750303E08129109
chr5178763906178763995E08142938
chr5178764060178764125E08143092
chr5178691565178691609E082-29359
chr5178691949178692040E082-28928
chr5178693301178693400E082-27568
chr5178694935178695062E082-25906
chr5178695066178695291E082-25677
chr5178695401178695672E082-25296
chr5178697588178698737E082-22231
chr5178698790178698834E082-22134
chr5178721870178722178E082902
chr5178722954178723011E0821986
chr5178741017178741694E08220049
chr5178741775178742088E08220807
chr5178744110178744202E08223142
chr5178744254178744417E08223286
chr5178744456178744516E08223488
chr5178744541178744660E08223573
chr5178744717178744790E08223749
chr5178744926178744976E08223958
chr5178745147178745566E08224179
chr5178745598178745659E08224630
chr5178745975178746029E08225007
chr5178746130178746202E08225162
chr5178746290178746340E08225322
chr5178746372178746422E08225404
chr5178749978178750035E08229010
chr5178750625178750758E08229657










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5178763690178763873E06742722
chr5178770551178770652E06749583
chr5178763690178763873E06842722
chr5178763690178763873E06942722
chr5178763690178763873E07242722
chr5178763690178763873E07342722
chr5178763690178763873E07442722