Variant report

Variant	nsv969280
Chromosome Location	chr5:28538513-28543896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538590357	chr5:28542210-28542211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553490012	chr5:28542239-28542240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141843478	chr5:28542255-28542256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76587654	chr5:28542256-28542257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75893444	chr5:28542259-28542260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373653095	chr5:28542260-28542261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397769830	chr5:28542261-28542262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4867567	chr5:28542271-28542272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552125295	chr5:28542272-28542273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554737411	chr5:28542310-28542311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7703940	chr5:28542339-28542340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78184858	chr5:28542365-28542366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191958293	chr5:28542384-28542385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372725921	chr5:28542441-28542442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147783369	chr5:28542442-28542443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533465242	chr5:28542492-28542493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545730738	chr5:28542560-28542561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535835481	chr5:28542583-28542584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185223957	chr5:28542584-28542585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566248815	chr5:28542606-28542607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141071919	chr5:28542614-28542615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4526115	chr5:28542696-28542697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369676488	chr5:28542717-28542718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72754459	chr5:28542790-28542791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143606540	chr5:28542801-28542802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112286781	chr5:28542855-28542856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544736551	chr5:28542873-28542874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11951348	chr5:28542909-28542910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150147601	chr5:28542937-28542938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538550673	chr5:28542950-28542951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554074284	chr5:28542954-28542955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138657342	chr5:28542991-28542992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188187961	chr5:28543044-28543045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554676115	chr5:28543091-28543092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576220800	chr5:28543105-28543106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544776324	chr5:28543114-28543115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556478008	chr5:28543163-28543164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62357844	chr5:28543183-28543184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557946072	chr5:28543206-28543207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545362797	chr5:28543299-28543300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557068513	chr5:28543337-28543338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560869528	chr5:28543347-28543348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577788742	chr5:28543354-28543355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572081977	chr5:28543380-28543381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192803759	chr5:28543404-28543405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561009534	chr5:28543406-28543407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370701370	chr5:28543475-28543476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531698312	chr5:28543479-28543480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576892846	chr5:28543493-28543494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184440122	chr5:28543499-28543500	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28542200-28544200	Enhancers	Hela-S3	cervix
2	chr5:28542800-28544200	Enhancers	NH-A	brain
3	chr5:28543000-28544000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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