rs2486396

Homo sapiens
C>T
UST : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0070 (2120/29964,GnomAD)
C==0071 (2083/29118,TOPMED)
C==0123 (617/5008,1000G)
C==0056 (216/3854,ALSPAC)
C==0047 (173/3708,TWINSUK)
chr6:149000610 (GRCh38.p7) (6q25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.149000610C>T
GRCh37.p13 chr 6NC_000006.11:g.149321746C>T

Gene: UST, uronyl 2-sulfotransferase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UST transcriptNM_005715.2:c.N/AIntron Variant
UST transcript variant X2XM_011535378.2:c.N/AIntron Variant
UST transcript variant X3XM_017010152.1:c.N/AGenic Downstream Transcript Variant
UST transcript variant X1XR_001743088.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.072T=0.928
1000GenomesAmericanSub694C=0.240T=0.760
1000GenomesEast AsianSub1008C=0.251T=0.749
1000GenomesEuropeSub1006C=0.036T=0.964
1000GenomesGlobalStudy-wide5008C=0.123T=0.877
1000GenomesSouth AsianSub978C=0.060T=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.056T=0.944
The Genome Aggregation DatabaseAfricanSub8732C=0.065T=0.935
The Genome Aggregation DatabaseAmericanSub832C=0.280T=0.720
The Genome Aggregation DatabaseEast AsianSub1600C=0.240T=0.760
The Genome Aggregation DatabaseEuropeSub18498C=0.049T=0.951
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.070T=0.929
The Genome Aggregation DatabaseOtherSub302C=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.071T=0.928
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.047T=0.953
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
rs24863960.000494alcohol dependence21314694

eQTL of rs2486396 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 rs2486396 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 )
chr6149334567149335019E06712821
chr6149335151149336852E06713405
chr6149349570149350427E06727824
chr6149367803149368392E06746057
chr6149289235149289326E068-32420
chr6149289349149289761E068-31985
chr6149289811149291418E068-30328
chr6149334567149335019E06812821
chr6149335151149336852E06813405
chr6149349570149350427E06827824
chr6149353118149354530E06831372
chr6149354569149354676E06832823
chr6149354965149355053E06833219
chr6149288137149289186E069-32560
chr6149289235149289326E069-32420
chr6149289349149289761E069-31985
chr6149311892149312125E069-9621
chr6149275779149275852E070-45894
chr6149275858149275917E070-45829
chr6149276111149276351E070-45395
chr6149276443149276976E070-44770
chr6149288137149289186E070-32560
chr6149289235149289326E070-32420
chr6149289349149289761E070-31985
chr6149310067149310145E070-11601
chr6149310225149310299E070-11447
chr6149310448149310516E070-11230
chr6149289349149289761E071-31985
chr6149310067149310145E071-11601
chr6149310225149310299E071-11447
chr6149310448149310516E071-11230
chr6149319954149320141E071-1605
chr6149320201149320322E071-1424
chr6149320374149320459E071-1287
chr6149320544149321806E0710
chr6149335151149336852E07113405
chr6149341174149341226E07119428
chr6149353118149354530E07131372
chr6149354569149354676E07132823
chr6149354965149355053E07133219
chr6149366951149367037E07145205
chr6149367278149367683E07145532
chr6149289235149289326E072-32420
chr6149289349149289761E072-31985
chr6149353021149353105E07231275
chr6149353118149354530E07231372
chr6149288137149289186E073-32560
chr6149289235149289326E073-32420
chr6149289349149289761E073-31985
chr6149335151149336852E07313405
chr6149365283149365427E07343537
chr6149365510149366166E07343764
chr6149288137149289186E074-32560
chr6149295023149295362E074-26384
chr6149295525149295610E074-26136
chr6149295647149295724E074-26022
chr6149295815149295865E074-25881
chr6149320544149321806E0740
chr6149349570149350427E07427824
chr6149353118149354530E07431372
chr6149367278149367683E07445532
chr6149288137149289186E081-32560
chr6149289235149289326E081-32420
chr6149289349149289761E081-31985
chr6149334164149334263E08112418
chr6149334567149335019E08112821
chr6149335151149336852E08113405
chr6149357657149357834E08135911
chr6149357977149358069E08136231
chr6149358101149358821E08136355
chr6149288137149289186E082-32560
chr6149334567149335019E08212821
chr6149335151149336852E08213405