Variant report

Variant	nsv980789
Chromosome Location	chr5:49911896-49913833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536611665	chr5:49911911-49911912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547389200	chr5:49911912-49911913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181928755	chr5:49911947-49911948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373335935	chr5:49912005-49912006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550176022	chr5:49912019-49912020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570304977	chr5:49912035-49912036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186797304	chr5:49912063-49912064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113181290	chr5:49912077-49912078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73095044	chr5:49912093-49912094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140738543	chr5:49912108-49912109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567050963	chr5:49912124-49912125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13177253	chr5:49912127-49912128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577685011	chr5:49912180-49912181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543765234	chr5:49912212-49912213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190042332	chr5:49912227-49912228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115120502	chr5:49912264-49912265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573868976	chr5:49912267-49912268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181166182	chr5:49912303-49912304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559450886	chr5:49912319-49912320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527787392	chr5:49912332-49912333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117870891	chr5:49912344-49912345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564159542	chr5:49912359-49912360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144574714	chr5:49912413-49912414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550142071	chr5:49912444-49912445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570302490	chr5:49912496-49912497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536101352	chr5:49912498-49912499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558866850	chr5:49912508-49912509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11746825	chr5:49912509-49912510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs115951270	chr5:49912542-49912543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534731181	chr5:49912569-49912570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557916200	chr5:49912597-49912598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577798146	chr5:49912607-49912608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116383083	chr5:49912608-49912609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556913587	chr5:49912638-49912639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200862380	chr5:49912639-49912640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573855858	chr5:49912684-49912685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111349164	chr5:49912708-49912709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544795368	chr5:49912757-49912758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556602248	chr5:49912896-49912897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189664662	chr5:49912921-49912922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564272579	chr5:49912972-49912973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568121762	chr5:49913004-49913005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533251162	chr5:49913023-49913024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56771420	chr5:49913026-49913027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563661708	chr5:49913033-49913034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574902845	chr5:49913034-49913035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142973900	chr5:49913049-49913050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549625945	chr5:49913067-49913068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542169382	chr5:49913075-49913076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566356440	chr5:49913100-49913101	Weak transcription	n/a	n/a	Overlapped CNVs	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:1 , 50 per page) page: 1

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

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