Variant report

Variant	nsv551098
Chromosome Location	chr10:58518278-58559447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58424658..58425526-chr10:58543096..58544051,4	MCF-7	breast:
2	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
3	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:
4	chr10:58520687..58523515-chr10:58525184..58528081,2	MCF-7	breast:
5	chr10:58424561..58425526-chr10:58543081..58543976,4	MCF-7	breast:
6	chr10:58550922..58552910-chr10:58558148..58559821,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563565467	chr10:58530417-58530418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530850573	chr10:58530482-58530483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546198435	chr10:58530486-58530487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564507782	chr10:58530493-58530494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73284956	chr10:58530526-58530527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571033131	chr10:58530548-58530549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547023906	chr10:58530570-58530571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568471464	chr10:58530581-58530582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529454404	chr10:58530582-58530583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192976702	chr10:58530598-58530599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79649088	chr10:58530611-58530612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539776778	chr10:58530633-58530634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185249993	chr10:58530681-58530682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558117975	chr10:58530739-58530740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570161485	chr10:58530778-58530779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74137786	chr10:58530792-58530793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552995762	chr10:58530797-58530798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs553584454	chr10:58530807-58530808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574465827	chr10:58530831-58530832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541980363	chr10:58530864-58530865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557220639	chr10:58530885-58530886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189509291	chr10:58530887-58530888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546160014	chr10:58530898-58530899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74757215	chr10:58530900-58530901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528452688	chr10:58530944-58530945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540284256	chr10:58530959-58530960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376628134	chr10:58530966-58530967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181892854	chr10:58530977-58530978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144535110	chr10:58530978-58530979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551136600	chr10:58531082-58531083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573479839	chr10:58531085-58531086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373846201	chr10:58531094-58531095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569147066	chr10:58531116-58531117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375736840	chr10:58531160-58531161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs1608109	chr10:58531169-58531170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148170499	chr10:58547026-58547027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186778954	chr10:58547055-58547056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536024837	chr10:58547091-58547092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554510747	chr10:58547093-58547094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576186124	chr10:58547124-58547125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543308970	chr10:58547136-58547137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562141237	chr10:58547176-58547177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546704688	chr10:58547183-58547184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190478028	chr10:58547191-58547192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74138924	chr10:58547205-58547206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1914554	chr10:58547220-58547221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559868665	chr10:58547221-58547222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530257990	chr10:58547222-58547223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142505015	chr10:58547256-58547257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146718621	chr10:58547266-58547267	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58530400-58531200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr10:58547000-58548000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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