Variant report

Variant	nsv947643
Chromosome Location	chr10:58963412-58969474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:
2	chr10:58964683..58966262-chr10:58967768..58970622,2	K562	blood:

Extended variants
information (count: 254 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143404136	chr10:58963427-58963428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192104722	chr10:58963438-58963439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6481260	chr10:58963458-58963459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576864829	chr10:58963462-58963463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183572314	chr10:58963483-58963484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139204395	chr10:58963490-58963491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559337037	chr10:58963491-58963492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561970011	chr10:58963523-58963524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115368668	chr10:58963531-58963532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542140029	chr10:58963559-58963560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188456144	chr10:58963568-58963569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191654256	chr10:58963569-58963570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534521032	chr10:58963582-58963583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370623288	chr10:58963583-58963584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143257391	chr10:58963599-58963600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553429169	chr10:58963604-58963605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12252923	chr10:58963612-58963613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528424291	chr10:58963657-58963658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546588298	chr10:58963661-58963662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73291759	chr10:58963676-58963677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386744198	chr10:58963687-58963688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6481261	chr10:58963688-58963689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182702170	chr10:58963817-58963818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138421694	chr10:58963838-58963839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372585993	chr10:58963843-58963844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61847067	chr10:58963864-58963865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575255773	chr10:58963897-58963898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558636409	chr10:58963898-58963899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577007424	chr10:58963934-58963935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569785609	chr10:58963983-58963984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534748659	chr10:58964016-58964017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10825998	chr10:58964027-58964028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186609617	chr10:58964049-58964050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141831996	chr10:58964052-58964053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554848278	chr10:58964074-58964075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557237821	chr10:58964188-58964189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575306124	chr10:58964310-58964311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369131855	chr10:58964356-58964357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573101209	chr10:58964389-58964390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150606202	chr10:58964391-58964392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540514590	chr10:58964400-58964401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563987921	chr10:58964410-58964411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72509078	chr10:58964418-58964419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10688465	chr10:58964419-58964420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200177906	chr10:58964420-58964421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528556965	chr10:58964439-58964440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540363984	chr10:58964451-58964452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191413735	chr10:58964464-58964465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184507028	chr10:58964473-58964474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550961194	chr10:58964528-58964529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58952400-58968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:58960200-58966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:58963600-58963800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:58963800-58970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:58966600-58967400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:58967400-58970600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:58968400-58969200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:58969200-58970800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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