Variant report

Variant	nsv968304
Chromosome Location	chr5:49913833-49915707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187412002	chr5:49913876-49913877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190715598	chr5:49913905-49913906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558346876	chr5:49913916-49913917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575370911	chr5:49913920-49913921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183927740	chr5:49913987-49913988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537623888	chr5:49914103-49914104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532299584	chr5:49914153-49914154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557464650	chr5:49914165-49914166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574041394	chr5:49914195-49914196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71615974	chr5:49914198-49914199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559736811	chr5:49914216-49914217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573585430	chr5:49914255-49914256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545681198	chr5:49914269-49914270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565357646	chr5:49914270-49914271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531161727	chr5:49914276-49914277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569329557	chr5:49914301-49914302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561076590	chr5:49914338-49914339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554650157	chr5:49914388-49914389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530167838	chr5:49914412-49914413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113842331	chr5:49914444-49914445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546201136	chr5:49914593-49914594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144050164	chr5:49914594-49914595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538570084	chr5:49914623-49914624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548595215	chr5:49914633-49914634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146445292	chr5:49914688-49914689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140802713	chr5:49914696-49914697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188527951	chr5:49914697-49914698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559174482	chr5:49914722-49914723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191386411	chr5:49914730-49914731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367631217	chr5:49914734-49914735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192947280	chr5:49914762-49914763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7447113	chr5:49914825-49914826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574082717	chr5:49914847-49914848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570970261	chr5:49914866-49914867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75430281	chr5:49914876-49914877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112406365	chr5:49914946-49914947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536702969	chr5:49914957-49914958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553417916	chr5:49914999-49915000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71615975	chr5:49915029-49915030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545396571	chr5:49915030-49915031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565604464	chr5:49915031-49915032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575836524	chr5:49915040-49915041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556641258	chr5:49915082-49915083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183184509	chr5:49915092-49915093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6861839	chr5:49915099-49915100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191411698	chr5:49915137-49915138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73095049	chr5:49915149-49915150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116786423	chr5:49915200-49915201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188316914	chr5:49915205-49915206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62365352	chr5:49915227-49915228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49903200-49915600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:49915600-49916400	Enhancers	Pancreatic Islets	Pancreatic Islet

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