rs2282237

Homo sapiens
C>T
HS3ST5 : Synonymous Variant
LOC101927768 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0299 (36322/121284,ExAC)
T=0241 (7239/29934,GnomAD)
T=0251 (7335/29118,TOPMED)
C==0251 (3268/13006,GO-ESP)
T=0302 (1512/5008,1000G)
T=0277 (1069/3854,ALSPAC)
T=0284 (1052/3708,TWINSUK)
chr6:114057806 (GRCh38.p7) (6q21)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.114057806C>T
GRCh37.p13 chr 6NC_000006.11:g.114378970C>T

Gene: HS3ST5, heparan sulfate-glucosamine 3-sulfotransferase 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HS3ST5 transcriptNM_153612.3:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5NP_705840.2:p.Glu...NP_705840.2:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X2XM_006715379.2:c....XM_006715379.2:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_006715442.1:p....XP_006715442.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X1XM_017010470.1:c....XM_017010470.1:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_016865959.1:p....XP_016865959.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X3XM_017010471.1:c....XM_017010471.1:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_016865960.1:p....XP_016865960.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X4XM_017010472.1:c....XM_017010472.1:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_016865961.1:p....XP_016865961.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X5XM_017010473.1:c....XM_017010473.1:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_016865962.1:p....XP_016865962.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X6XM_017010474.1:c....XM_017010474.1:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_016865963.1:p....XP_016865963.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant
HS3ST5 transcript variant X7XM_011535588.2:c....XM_011535588.2:c.492G>AE [GAG]> E [GAA]Coding Sequence Variant
heparan sulfate glucosamine 3-O-sulfotransferase 5 isoform X1XP_011533890.1:p....XP_011533890.1:p.Glu164=E [Glu]> E [Glu]Synonymous Variant

Gene: LOC101927768, uncharacterized LOC101927768(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HDAC2-AS2 transcriptNR_125845.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.840T=0.160
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.649T=0.351
1000GenomesEuropeSub1006C=0.697T=0.303
1000GenomesGlobalStudy-wide5008C=0.698T=0.302
1000GenomesSouth AsianSub978C=0.650T=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.723T=0.277
The Exome Aggregation ConsortiumAmericanSub21868C=0.660T=0.339
The Exome Aggregation ConsortiumAsianSub25158C=0.666T=0.333
The Exome Aggregation ConsortiumEuropeSub73350C=0.724T=0.276
The Exome Aggregation ConsortiumGlobalStudy-wide121284C=0.700T=0.299
The Exome Aggregation ConsortiumOtherSub908C=0.700T=0.300
The Genome Aggregation DatabaseAfricanSub8702C=0.827T=0.173
The Genome Aggregation DatabaseAmericanSub836C=0.580T=0.420
The Genome Aggregation DatabaseEast AsianSub1608C=0.639T=0.361
The Genome Aggregation DatabaseEuropeSub18486C=0.745T=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.758T=0.241
The Genome Aggregation DatabaseOtherSub302C=0.700T=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.748T=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.716T=0.284
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22822370.000135alcohol dependence21314694

eQTL of rs2282237 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 rs2282237 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 )
chr6114329024114329096E067-49874
chr6114329139114329249E067-49721
chr6114329335114329395E067-49575
chr6114329464114329528E067-49442
chr6114329636114329728E067-49242
chr6114330455114330713E067-48257
chr6114332036114332403E067-46567
chr6114376568114376703E067-2267
chr6114377049114377223E067-1747
chr6114383658114383714E0674688
chr6114384027114384194E0675057
chr6114398307114398376E06719337
chr6114411771114411821E06732801
chr6114411936114412092E06732966
chr6114425709114425759E06746739
chr6114329024114329096E068-49874
chr6114329139114329249E068-49721
chr6114363980114364121E068-14849
chr6114375103114375248E068-3722
chr6114376568114376703E068-2267
chr6114383658114383714E0684688
chr6114384027114384194E0685057
chr6114384886114384982E0685916
chr6114398307114398376E06819337
chr6114363349114363466E069-15504
chr6114363534114363894E069-15076
chr6114363980114364121E069-14849
chr6114376568114376703E069-2267
chr6114377049114377223E069-1747
chr6114377745114377881E069-1089
chr6114377949114378199E069-771
chr6114383343114383484E0694373
chr6114383658114383714E0694688
chr6114384027114384194E0695057
chr6114398307114398376E06919337
chr6114411145114411220E06932175
chr6114411771114411821E06932801
chr6114411936114412092E06932966
chr6114428406114428483E06949436
chr6114376568114376703E070-2267
chr6114377049114377223E070-1747
chr6114389971114390191E07011001
chr6114398307114398376E07019337
chr6114410165114410215E07031195
chr6114329024114329096E071-49874
chr6114329139114329249E071-49721
chr6114329335114329395E071-49575
chr6114332470114333140E071-45830
chr6114338471114338582E071-40388
chr6114376568114376703E071-2267
chr6114377049114377223E071-1747
chr6114383343114383484E0714373
chr6114383658114383714E0714688
chr6114384027114384194E0715057
chr6114389971114390191E07111001
chr6114398307114398376E07119337
chr6114411145114411220E07132175
chr6114411771114411821E07132801
chr6114411936114412092E07132966
chr6114413409114413475E07134439
chr6114329636114329728E072-49242
chr6114376568114376703E072-2267
chr6114377049114377223E072-1747
chr6114383343114383484E0724373
chr6114383658114383714E0724688
chr6114389971114390191E07211001
chr6114398307114398376E07219337
chr6114408836114408962E07229866
chr6114411771114411821E07232801
chr6114411936114412092E07232966
chr6114413409114413475E07234439
chr6114417723114418012E07238753
chr6114329024114329096E073-49874
chr6114329139114329249E073-49721
chr6114329024114329096E074-49874
chr6114329139114329249E074-49721
chr6114363349114363466E074-15504
chr6114363534114363894E074-15076
chr6114365897114365967E074-13003
chr6114376568114376703E074-2267
chr6114377049114377223E074-1747
chr6114383343114383484E0744373
chr6114383658114383714E0744688
chr6114389971114390191E07411001
chr6114397135114397185E07418165
chr6114408836114408962E07429866
chr6114411145114411220E07432175
chr6114411771114411821E07432801
chr6114411936114412092E07432966
chr6114413409114413475E07434439
chr6114422347114422992E07443377
chr6114377049114377223E081-1747
chr6114377745114377881E081-1089
chr6114377949114378199E081-771
chr6114377049114377223E082-1747
chr6114379290114379353E082320
chr6114389971114390191E08211001