Variant report

Variant	nsv597988
Chromosome Location	chr5:45527058-45527826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28483020	chr5:45527058-45527059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187825125	chr5:45527059-45527060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146107520	chr5:45527073-45527074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28541899	chr5:45527085-45527086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530492791	chr5:45527086-45527087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549078004	chr5:45527097-45527098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563874282	chr5:45527109-45527110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112713453	chr5:45527121-45527122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28620849	chr5:45527152-45527153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142451723	chr5:45527158-45527159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373551436	chr5:45527171-45527172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368555144	chr5:45527173-45527174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372565701	chr5:45527177-45527178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377151579	chr5:45527235-45527236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543129104	chr5:45527241-45527242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559619256	chr5:45527258-45527259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567283130	chr5:45527269-45527270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535984109	chr5:45527277-45527278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375926104	chr5:45527279-45527280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386687790	chr5:45527280-45527281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184902460	chr5:45527290-45527291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371799944	chr5:45527324-45527325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112113918	chr5:45527331-45527332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188387570	chr5:45527335-45527336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569758295	chr5:45527342-45527343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570687793	chr5:45527345-45527346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372770539	chr5:45527348-45527349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532654766	chr5:45527359-45527360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143839544	chr5:45527367-45527368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146449984	chr5:45527368-45527369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535298849	chr5:45527396-45527397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10615896	chr5:45527469-45527470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56850345	chr5:45527470-45527471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397720069	chr5:45527471-45527472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397745048	chr5:45527473-45527474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192160799	chr5:45527492-45527493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372853691	chr5:45527535-45527536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139532339	chr5:45527547-45527548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534576569	chr5:45527560-45527561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184247136	chr5:45527590-45527591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201490314	chr5:45527647-45527648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199529085	chr5:45527657-45527658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538941492	chr5:45527658-45527659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374667663	chr5:45527667-45527668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369041569	chr5:45527675-45527676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544123056	chr5:45527701-45527702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369936097	chr5:45527704-45527705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149659742	chr5:45527710-45527711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34086253	chr5:45527732-45527733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189445790	chr5:45527744-45527745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45525800-45532800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links