Variant report

Variant	rs4382847
Chromosome Location	chr10:52566975-52566976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10740041	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10821826	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16914267	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2820743	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2820760	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2820762	1.00[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap]
rs4078160	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4245007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245008	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4256922	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4445583	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4466777	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4619096	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4935190	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61857132	0.80[EUR][1000 genomes]
rs6479731	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7072584	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7084132	0.85[AMR][1000 genomes];0.97[EUR][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4382847	ASAH2B	cis	Artery Tibial	GTEx
rs4382847	ASAH2B	cis	Stomach	GTEx
rs4382847	ASAH2	cis	Thyroid	GTEx
rs4382847	ASAH2B	cis	lung	GTEx
rs4382847	ASAH2B	cis	Esophagus Mucosa	GTEx
rs4382847	ASAH2B	cis	Muscle Skeletal	GTEx
rs4382847	ASAH2B	cis	Thyroid	GTEx
rs4382847	ASAH2B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52555200-52575800	Weak transcription	Pancreas	Pancrea
2	chr10:52563800-52569400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:52564600-52567200	Strong transcription	Fetal Intestine Large	intestine
4	chr10:52564800-52567600	Strong transcription	HepG2	liver
5	chr10:52565200-52567200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr10:52565400-52567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:52565600-52567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:52565800-52567000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:52565800-52567400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr10:52565800-52567400	Strong transcription	Fetal Intestine Small	intestine
11	chr10:52565800-52575400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:52565800-52592000	Weak transcription	Stomach Mucosa	stomach
13	chr10:52566000-52567400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:52566000-52567400	Genic enhancers	Liver	Liver
15	chr10:52566200-52567200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:52566200-52567200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:52566200-52567200	Weak transcription	NHDF-Ad	bronchial
18	chr10:52566200-52567600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:52566200-52567600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:52566200-52568200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:52566400-52567600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:52566600-52567800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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