rs243446

Homo sapiens
A>G
HS6ST2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0474 (9639/20321,GnomAD)
G=0471 (1778/3775,1000G)
G=0491 (1820/3708,TWINSUK)
G=0481 (1390/2889,ALSPAC)
chrX:132694662 (GRCh38.p7) (Xq26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.132694662A>G
GRCh37.p13 chr XNC_000023.10:g.131828690A>G
HS6ST2 RefSeqGeneNG_012840.1:g.271734T>C

Gene: HS6ST2, heparan sulfate 6-O-sulfotransferase 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HS6ST2 transcript variant LNM_001077188.1:c.N/AIntron Variant
HS6ST2 transcript variant SNM_147175.3:c.N/AIntron Variant
HS6ST2 transcript variant X1XM_005262490.3:c.N/AIntron Variant
HS6ST2 transcript variant X2XM_005262491.2:c.N/AIntron Variant
HS6ST2 transcript variant X2XM_011531406.1:c.N/AIntron Variant
HS6ST2 transcript variant X3XM_017029944.1:c.N/AIntron Variant
HS6ST2 transcript variant X3XM_017029945.1:c.N/AIntron Variant
HS6ST2 transcript variant X4XM_017029946.1:c.N/AIntron Variant
HS6ST2 transcript variant X7XM_011531407.2:c.N/AGenic Downstream Transcript Variant
HS6ST2 transcript variant X8XM_011531408.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003A=0.377G=0.623
1000GenomesAmericanSub524A=0.700G=0.300
1000GenomesEast AsianSub764A=0.690G=0.310
1000GenomesEuropeSub766A=0.470G=0.530
1000GenomesGlobalStudy-wide3775A=0.529G=0.471
1000GenomesSouth AsianSub718A=0.510G=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889A=0.519G=0.481
The Genome Aggregation DatabaseAfricanSub5698A=0.397G=0.603
The Genome Aggregation DatabaseAmericanSub617A=0.750G=0.250
The Genome Aggregation DatabaseEast AsianSub959A=0.680G=0.320
The Genome Aggregation DatabaseEuropeSub12864A=0.480G=0.519
The Genome Aggregation DatabaseGlobalStudy-wide20321A=0.474G=0.525
The Genome Aggregation DatabaseOtherSub183A=0.450G=0.550
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.509G=0.491
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs2434460.00092alcohol dependence20201924

eQTL of rs243446 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 rs243446 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 )
chrX131874439131874908E06945749
chrX131792913131792963E070-35727
chrX131793196131793268E070-35422
chrX131820334131820738E070-7952
chrX131868884131868934E07440194