Variant report

Variant	nsv1023430
Chromosome Location	chr5:8271302-8291305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141423126	chr5:8280800-8280801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560464263	chr5:8280809-8280810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73045048	chr5:8280815-8280816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6880841	chr5:8280840-8280841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546285601	chr5:8280880-8280881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143362798	chr5:8280886-8280887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538994538	chr5:8280915-8280916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527549428	chr5:8280977-8280978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546702184	chr5:8281024-8281025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559110587	chr5:8281053-8281054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1506116	chr5:8281056-8281057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535101574	chr5:8281062-8281063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181151451	chr5:8281065-8281066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60331175	chr5:8281081-8281082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529379375	chr5:8281083-8281084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1506117	chr5:8281086-8281087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1506118	chr5:8281141-8281142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs59742087	chr5:8281154-8281155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76530875	chr5:8281180-8281181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558899642	chr5:8281202-8281203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528205152	chr5:8281270-8281271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114609598	chr5:8281272-8281273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561963196	chr5:8281275-8281276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75747765	chr5:8281292-8281293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550860600	chr5:8281327-8281328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1506119	chr5:8281329-8281330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79721995	chr5:8281348-8281349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186036368	chr5:8281353-8281354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386685245	chr5:8281379-8281380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs70940801	chr5:8281380-8281381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111773714	chr5:8281393-8281394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552633634	chr5:8281472-8281473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566064909	chr5:8281475-8281476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58737768	chr5:8281482-8281483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376167301	chr5:8281501-8281502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61607420	chr5:8281509-8281510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188931675	chr5:8281514-8281515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555528323	chr5:8288030-8288031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79574392	chr5:8288126-8288127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142500585	chr5:8288161-8288162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531260524	chr5:8288189-8288190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114112107	chr5:8288200-8288201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573897254	chr5:8289001-8289002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561948253	chr5:8289003-8289004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73045069	chr5:8289065-8289066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1506125	chr5:8289122-8289123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368819673	chr5:8289123-8289124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183275066	chr5:8289152-8289153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4607327	chr5:8289159-8289160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187826454	chr5:8289170-8289171	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	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
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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8280800-8281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:8288000-8288200	Enhancers	Fetal Lung	lung
3	chr5:8289000-8290200	Enhancers	Fetal Brain Male	brain
4	chr5:8289200-8289600	Enhancers	Fetal Muscle Trunk	muscle

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