Variant report

Variant	rs4935190
Chromosome Location	chr10:52547708-52547709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10740041	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10821826	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16914267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2820743	0.85[EUR][1000 genomes]
rs2820760	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2820762	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4078160	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4245007	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4245008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4256922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4382847	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4445583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4466777	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4619096	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61857132	0.83[EUR][1000 genomes]
rs6479731	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7072584	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7084132	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4935190	ASAH2B	cis	lung	GTEx
rs4935190	ASAH2B	cis	Esophagus Mucosa	GTEx
rs4935190	ASAH2	cis	Skin Sun Exposed Lower leg	GTEx
rs4935190	ASAH2	cis	Artery Tibial	GTEx
rs4935190	ASAH2	cis	Thyroid	GTEx
rs4935190	ASAH2B	cis	Esophagus Muscularis	GTEx
rs4935190	ASAH2B	cis	Muscle Skeletal	GTEx
rs4935190	ASAH2	cis	Adipose Subcutaneous	GTEx
rs4935190	ASAH2B	cis	Thyroid	GTEx
rs4935190	ASAH2B	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52547200-52548000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:52547400-52547800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr10:52547400-52548000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr10:52547400-52548000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr10:52547400-52548200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:52547400-52548400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:52547400-52548800	Enhancers	Stomach Mucosa	stomach
8	chr10:52547400-52549200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:52547600-52548400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:52547600-52548400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:52547600-52548800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:52547600-52549000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:52547600-52549200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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

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