Variant report

Variant	nsv823041
Chromosome Location	chr5:27176399-27191305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:27188701..27190583-chr5:27195878..27197425,2	K562	blood:
2	chr5:27187232..27190139-chr5:27197303..27199539,2	MCF-7	breast:
3	chr5:27177888..27180469-chr5:27180601..27183505,3	MCF-7	breast:
4	chr5:27178494..27180623-chr5:27183563..27186958,3	MCF-7	breast:
5	chr5:27178494..27180623-chr5:27183563..27186958,3	MCF-7	breast:
6	chr5:27177888..27180469-chr5:27180601..27183505,3	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181129837	chr5:27180281-27180282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115500745	chr5:27180347-27180348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199968817	chr5:27180374-27180375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72010463	chr5:27180375-27180376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530325093	chr5:27180433-27180434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553030434	chr5:27180479-27180480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574505445	chr5:27180500-27180501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77746919	chr5:27180588-27180589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185668354	chr5:27180591-27180592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575347668	chr5:27180592-27180593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117895776	chr5:27180597-27180598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74991881	chr5:27180659-27180660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190432999	chr5:27180703-27180704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557145874	chr5:27180717-27180718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143884701	chr5:27180718-27180719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557847929	chr5:27180722-27180723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541396563	chr5:27180735-27180736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201491326	chr5:27180736-27180737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559295478	chr5:27180737-27180738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80060394	chr5:27180762-27180763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113832813	chr5:27180874-27180875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563108601	chr5:27180920-27180921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569818244	chr5:27180936-27180937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180783569	chr5:27180946-27180947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552531305	chr5:27180983-27180984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368675573	chr5:27181014-27181015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117783261	chr5:27181018-27181019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114507877	chr5:27181021-27181022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568016524	chr5:27181066-27181067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371264573	chr5:27181078-27181079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375026638	chr5:27181092-27181093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151142556	chr5:27181155-27181156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575289738	chr5:27181192-27181193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72740668	chr5:27181251-27181252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185447566	chr5:27181321-27181322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573017884	chr5:27181402-27181403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376148285	chr5:27181460-27181461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113659137	chr5:27181488-27181489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561657937	chr5:27181490-27181491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113292134	chr5:27181510-27181511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369496491	chr5:27181585-27181586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80219937	chr5:27181595-27181596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541861317	chr5:27181616-27181617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114133254	chr5:27181647-27181648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530935241	chr5:27181650-27181651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543315947	chr5:27181655-27181656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552660650	chr5:27181677-27181678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201352022	chr5:27181707-27181708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562894843	chr5:27181710-27181711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564486328	chr5:27181714-27181715	Weak transcription	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27180200-27181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:27180400-27181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:27181400-27186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:27185000-27185400	Enhancers	Fetal Brain Male	brain
5	chr5:27185400-27186600	Weak transcription	Fetal Brain Male	brain
6	chr5:27186600-27187000	Enhancers	Fetal Brain Male	brain
7	chr5:27186800-27187200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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