Variant report

Variant	nsv895072
Chromosome Location	chr10:42877581-42947627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:
2	chr10:42861377..42864864-chr10:42876467..42879026,3	K562	blood:
3	chr10:42939273..42941878-chr10:42945639..42947236,2	K562	blood:

Variant related genes	Relation type
ENSG00000215146	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9988706	chr10:42877581-42877582	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114401585	chr10:42877582-42877583	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547736348	chr10:42877609-42877610	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563998254	chr10:42877613-42877614	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183970540	chr10:42877619-42877620	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561492251	chr10:42877642-42877643	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572712913	chr10:42877706-42877707	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541333945	chr10:42877764-42877765	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73255668	chr10:42877828-42877829	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189656300	chr10:42877852-42877853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543379941	chr10:42877854-42877855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550784243	chr10:42877858-42877859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374118097	chr10:42877870-42877871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563440954	chr10:42877902-42877903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532401305	chr10:42877914-42877915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552139069	chr10:42877941-42877942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373332601	chr10:42877952-42877953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534918021	chr10:42877962-42877963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181300680	chr10:42878004-42878005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73255670	chr10:42878023-42878024	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539588578	chr10:42878032-42878033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546589713	chr10:42878035-42878036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78248975	chr10:42878082-42878083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557120297	chr10:42878102-42878103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566729875	chr10:42878134-42878135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565830268	chr10:42878152-42878153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576997106	chr10:42878174-42878175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116346130	chr10:42878185-42878186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147346359	chr10:42878210-42878211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572703701	chr10:42878214-42878215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73255671	chr10:42878224-42878225	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139593970	chr10:42878253-42878254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568604355	chr10:42878327-42878328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186829988	chr10:42878342-42878343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557399290	chr10:42878370-42878371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34504475	chr10:42878456-42878457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577383276	chr10:42878487-42878488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368101079	chr10:42878489-42878490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372374667	chr10:42878490-42878491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563478976	chr10:42878506-42878507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532487883	chr10:42878507-42878508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552227008	chr10:42878515-42878516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552815628	chr10:42878586-42878587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs57122463	chr10:42878608-42878609	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201265713	chr10:42878616-42878617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190068080	chr10:42878621-42878622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548509154	chr10:42878632-42878633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12784016	chr10:42878694-42878695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568240592	chr10:42878696-42878697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4480492	chr10:42878702-42878703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17440070	CNVD
Melanoma	20877625	CNVD
Hirschsprung''s Disease	19925665	CNVD
Hirschsprung''s Disease	20456320	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42877400-42877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:42918200-42918600	Enhancers	Left Ventricle	heart
3	chr10:42939200-42940000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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