Variant report

Variant	rs13189
Chromosome Location	chr10:52516765-52516766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10994247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1133222	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16909463	1.00[JPT][hapmap]
rs4497350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6479702	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895393	chr10:52413720-52530819	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1825222	chr10:52477544-52527856	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv948008	chr10:52500270-52536321	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3363512	chr10:52502196-52523494	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3413163	chr10:52502296-52520694	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs13189	ASAH2	cis	Artery Tibial	GTEx
rs13189	ASAH2B	cis	Esophagus Muscularis	GTEx
rs13189	ASAH2B	cis	Esophagus Mucosa	GTEx
rs13189	ASAH2	cis	Adipose Subcutaneous	GTEx
rs13189	ASAH2B	cis	Heart Left Ventricle	GTEx
rs13189	ASAH2B	cis	Thyroid	GTEx
rs13189	ASAH2B	cis	Stomach	GTEx
rs13189	ASAH2	cis	Thyroid	GTEx
rs13189	ASAH2B	cis	Artery Aorta	GTEx
rs13189	ASAH2	cis	Skin Sun Exposed Lower leg	GTEx
rs13189	ASAH2B	cis	lung	GTEx
rs13189	ASAH2B	cis	Artery Tibial	GTEx

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52501000-52520200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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