Variant report

Variant	nsv964749
Chromosome Location	chr5:2050135-2051682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570617979	chr5:2050139-2050140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185457842	chr5:2050174-2050175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546862476	chr5:2050196-2050197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568040609	chr5:2050199-2050200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116566999	chr5:2050244-2050245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10078909	chr5:2050249-2050250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569953659	chr5:2050277-2050278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13190016	chr5:2050303-2050304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs558618455	chr5:2050320-2050321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142263604	chr5:2050324-2050325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10065111	chr5:2050328-2050329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553186807	chr5:2050375-2050376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74821409	chr5:2050422-2050423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4975838	chr5:2050483-2050484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs146775758	chr5:2050485-2050486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537880576	chr5:2050488-2050489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563246168	chr5:2050505-2050506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76952854	chr5:2050509-2050510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545854130	chr5:2050554-2050555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368962330	chr5:2050579-2050580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200049141	chr5:2050614-2050615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140516293	chr5:2050687-2050688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4975837	chr5:2050736-2050737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556641315	chr5:2050758-2050759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58810703	chr5:2050765-2050766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561748562	chr5:2050814-2050815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377153905	chr5:2050846-2050847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369842397	chr5:2050847-2050848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35830945	chr5:2050857-2050858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58155659	chr5:2050859-2050860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554305369	chr5:2050867-2050868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529140112	chr5:2050907-2050908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189984801	chr5:2050925-2050926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369643681	chr5:2050928-2050929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550610754	chr5:2051001-2051002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181522790	chr5:2051044-2051045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184597035	chr5:2051102-2051103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537046566	chr5:2051123-2051124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9312976	chr5:2051124-2051125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373036383	chr5:2051141-2051142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570598871	chr5:2051167-2051168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34380409	chr5:2051180-2051181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534809627	chr5:2051209-2051210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13154748	chr5:2051244-2051245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138365090	chr5:2051245-2051246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7701070	chr5:2051254-2051255	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141350193	chr5:2051296-2051297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35208484	chr5:2051323-2051324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78619394	chr5:2051380-2051381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188361349	chr5:2051385-2051386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2046000-2056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:2051200-2052000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:2051400-2052000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:2051600-2052000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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