Variant report

Variant	nsv527941
Chromosome Location	chr10:59091738-59113403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:59098757..59099315-chr10:59825173..59825685,2	MCF-7	breast:
2	chr10:59098466..59099424-chr10:59352866..59354001,3	MCF-7	breast:
3	chr10:59098744..59099488-chr10:59416761..59417512,2	MCF-7	breast:
4	chr10:59098430..59099263-chr10:59609222..59610076,2	MCF-7	breast:
5	chr10:59098621..59099527-chr10:59416327..59417352,4	MCF-7	breast:

Extended variants
information (count: 253 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:253 , 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	rs548429477	chr10:59095800-59095801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191821403	chr10:59095806-59095807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537217072	chr10:59095816-59095817	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559131050	chr10:59095819-59095820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143738291	chr10:59095824-59095825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs16910529	chr10:59095842-59095843	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553950647	chr10:59095847-59095848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546381986	chr10:59095853-59095854	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572069349	chr10:59095855-59095856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs7902293	chr10:59095859-59095860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs57854276	chr10:59095860-59095861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11005757	chr10:59095872-59095873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs151092024	chr10:59095874-59095875	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565072814	chr10:59095879-59095880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532214573	chr10:59095885-59095886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547482565	chr10:59095902-59095903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573358740	chr10:59095903-59095904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534415055	chr10:59095909-59095910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs142422668	chr10:59095924-59095925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529997910	chr10:59095927-59095928	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2928463	chr10:59095932-59095933	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570226272	chr10:59095937-59095938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs114421117	chr10:59095938-59095939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs2928464	chr10:59095942-59095943	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115463025	chr10:59095951-59095952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs146655497	chr10:59095952-59095953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184016642	chr10:59095958-59095959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139010643	chr10:59095962-59095963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572184285	chr10:59095967-59095968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2928465	chr10:59095976-59095977	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143034634	chr10:59095985-59095986	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575987849	chr10:59095990-59095991	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150406231	chr10:59095993-59095994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558625586	chr10:59096006-59096007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138073275	chr10:59096018-59096019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149537768	chr10:59096019-59096020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143999298	chr10:59096034-59096035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577393324	chr10:59096046-59096047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs139941976	chr10:59096053-59096054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528250992	chr10:59096055-59096056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530854122	chr10:59096056-59096057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552834841	chr10:59096058-59096059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74435392	chr10:59096062-59096063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188955337	chr10:59096064-59096065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149223508	chr10:59096070-59096071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370636583	chr10:59096071-59096072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190407809	chr10:59096079-59096080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs182940647	chr10:59096087-59096088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73299359	chr10:59096095-59096096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191694660	chr10:59096098-59096099	Active TSS	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	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59095800-59096200	Active TSS	Fetal Kidney	kidney
2	chr10:59096200-59096400	Flanking Active TSS	Fetal Kidney	kidney
3	chr10:59102600-59104800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr10:59110600-59111200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:59110600-59111200	Enhancers	Pancreas	Pancrea

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