Variant report

Variant	nsv10660
Chromosome Location	chr5:5088517-5095759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576988381	chr5:5088544-5088545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544538798	chr5:5088561-5088562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186461210	chr5:5088618-5088619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2652057	chr5:5088630-5088631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569812452	chr5:5088631-5088632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191702586	chr5:5088727-5088728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183478774	chr5:5088728-5088729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202125818	chr5:5088825-5088826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200461187	chr5:5088827-5088828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36022876	chr5:5088830-5088831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74970264	chr5:5088837-5088838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2652055	chr5:5088859-5088860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182274347	chr5:5088861-5088862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543493256	chr5:5088869-5088870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563755825	chr5:5088875-5088876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574850683	chr5:5088876-5088877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537333514	chr5:5088898-5088899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370655860	chr5:5088931-5088932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186893134	chr5:5088949-5088950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115628956	chr5:5089038-5089039	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559951246	chr5:5089073-5089074	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1382898	chr5:5089088-5089089	Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191501930	chr5:5089090-5089091	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1382897	chr5:5089096-5089097	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529843262	chr5:5089097-5089098	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549820258	chr5:5089101-5089102	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569768895	chr5:5089120-5089121	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73049827	chr5:5089123-5089124	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577464583	chr5:5089130-5089131	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147567501	chr5:5089157-5089158	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142233657	chr5:5089159-5089160	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1382896	chr5:5089229-5089230	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368430139	chr5:5089285-5089286	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146174323	chr5:5089339-5089340	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568089783	chr5:5089368-5089369	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537167979	chr5:5089374-5089375	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557388805	chr5:5089423-5089424	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184021181	chr5:5089434-5089435	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189600574	chr5:5089437-5089438	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553467211	chr5:5089455-5089456	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546426589	chr5:5089484-5089485	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377216104	chr5:5089497-5089498	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369719275	chr5:5089500-5089501	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112496884	chr5:5089501-5089502	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147636913	chr5:5089508-5089509	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs56291036	chr5:5089525-5089526	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553285133	chr5:5089549-5089550	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372069086	chr5:5089566-5089567	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs16874686	chr5:5089567-5089568	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574968938	chr5:5089598-5089599	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	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
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
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
Breast cancer	21364760	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5088200-5089200	Enhancers	HepG2	liver
2	chr5:5089000-5089600	Bivalent/Poised TSS	HSMMtube	muscle
3	chr5:5089600-5090800	Active TSS	HSMMtube	muscle

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