Variant report

Variant	nsv880369
Chromosome Location	chr5:28636352-28664932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
2	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4867149	chr5:28636352-28636353	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541682760	chr5:28636393-28636394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148356519	chr5:28636403-28636404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530811063	chr5:28636447-28636448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182382326	chr5:28636454-28636455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564068480	chr5:28636521-28636522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544834191	chr5:28636522-28636523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143240949	chr5:28636546-28636547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546634846	chr5:28636580-28636581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546109364	chr5:28637413-28637414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34390521	chr5:28637420-28637421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35085239	chr5:28637446-28637447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139598441	chr5:28637461-28637462	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188656938	chr5:28637535-28637536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35904560	chr5:28637548-28637549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs80021275	chr5:28637550-28637551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539869194	chr5:28637556-28637557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs36064694	chr5:28637589-28637590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191270165	chr5:28637659-28637660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374156310	chr5:28637671-28637672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528963154	chr5:28637714-28637715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550676454	chr5:28637740-28637741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558390032	chr5:28637776-28637777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569909979	chr5:28637786-28637787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531021111	chr5:28637790-28637791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538528987	chr5:28648230-28648231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556588105	chr5:28648292-28648293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563025415	chr5:28648379-28648380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545089312	chr5:28648383-28648384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184660273	chr5:28648387-28648388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187846344	chr5:28648396-28648397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572187821	chr5:28648430-28648431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542762168	chr5:28648434-28648435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560742521	chr5:28648496-28648497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6450656	chr5:28648576-28648577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543652968	chr5:28648577-28648578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201142874	chr5:28648585-28648586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192376470	chr5:28648586-28648587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532095900	chr5:28648588-28648589	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28636200-28636600	Active TSS	A549	lung
2	chr5:28637400-28637800	Active TSS	K562	blood
3	chr5:28648200-28648600	Enhancers	NH-A	brain

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