Variant report

Variant	nsv1019711
Chromosome Location	chr5:29499039-29512100
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	chr1:149857600..149859973-chr5:29500984..29503461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184270	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 529 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs641437	chr5:29499039-29499040	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553344266	chr5:29499040-29499041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180832119	chr5:29499046-29499047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536020428	chr5:29499052-29499053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs9292329	chr5:29499064-29499065	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9292330	chr5:29499089-29499090	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144896994	chr5:29499096-29499097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79777758	chr5:29499103-29499104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115059848	chr5:29499137-29499138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561795625	chr5:29499138-29499139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186343223	chr5:29499178-29499179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs80212348	chr5:29499195-29499196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543974907	chr5:29499228-29499229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562322280	chr5:29499247-29499248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190791773	chr5:29499263-29499264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79255695	chr5:29499298-29499299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs9292331	chr5:29499305-29499306	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139786934	chr5:29499374-29499375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182902879	chr5:29499376-29499377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs577828411	chr5:29499405-29499406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568739805	chr5:29499443-29499444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536131468	chr5:29499457-29499458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187241927	chr5:29499482-29499483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77208405	chr5:29499506-29499507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567344332	chr5:29499518-29499519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370462724	chr5:29499562-29499563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535925940	chr5:29499565-29499566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540088080	chr5:29499569-29499570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577559404	chr5:29499577-29499578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114240476	chr5:29499613-29499614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547446804	chr5:29499641-29499642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538697546	chr5:29499643-29499644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555753508	chr5:29499651-29499652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573726710	chr5:29499653-29499654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558383638	chr5:29499655-29499656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77612159	chr5:29499742-29499743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575148733	chr5:29499743-29499744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4867179	chr5:29499751-29499752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191795111	chr5:29499757-29499758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559958229	chr5:29499793-29499794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527400541	chr5:29499817-29499818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548830817	chr5:29499826-29499827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368408408	chr5:29499855-29499856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560850427	chr5:29499880-29499881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35879095	chr5:29499920-29499921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs13189257	chr5:29499952-29499953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569577211	chr5:29499958-29499959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539607844	chr5:29499970-29499971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143503123	chr5:29499982-29499983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4867180	chr5:29499999-29500000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29498600-29499400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:29499400-29505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:29507000-29516000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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