Variant report

Variant	nsv597757
Chromosome Location	chr5:29500305-29510636
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
ENSG00000178096	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 425 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs625812	chr5:29500305-29500306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531886793	chr5:29500355-29500356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542695381	chr5:29500356-29500357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113865124	chr5:29500372-29500373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376594902	chr5:29500374-29500375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531287623	chr5:29500375-29500376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544054090	chr5:29500384-29500385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552608562	chr5:29500385-29500386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188165841	chr5:29500396-29500397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563144297	chr5:29500406-29500407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533704332	chr5:29500413-29500414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551815944	chr5:29500417-29500418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567039893	chr5:29500421-29500422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs686601	chr5:29500432-29500433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192445518	chr5:29500442-29500443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183665710	chr5:29500443-29500444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567429344	chr5:29500457-29500458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577277484	chr5:29500462-29500463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112849390	chr5:29500464-29500465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571577391	chr5:29500470-29500471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538906366	chr5:29500474-29500475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553820147	chr5:29500480-29500481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150417130	chr5:29500506-29500507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111316602	chr5:29500507-29500508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565174956	chr5:29500514-29500515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562865481	chr5:29500527-29500528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554666162	chr5:29500532-29500533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7705810	chr5:29500536-29500537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543418139	chr5:29500538-29500539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564852714	chr5:29500577-29500578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143798328	chr5:29500594-29500595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548275790	chr5:29500624-29500625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111397761	chr5:29500629-29500630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560670634	chr5:29500631-29500632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145006113	chr5:29500644-29500645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78866352	chr5:29500647-29500648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1700764	chr5:29500698-29500699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549181178	chr5:29500724-29500725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567394211	chr5:29500739-29500740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531671082	chr5:29500741-29500742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10065289	chr5:29500755-29500756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571603692	chr5:29500760-29500761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114589413	chr5:29500788-29500789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78013916	chr5:29500838-29500839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553983960	chr5:29500848-29500849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549573886	chr5:29500854-29500855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62354875	chr5:29500869-29500870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192353974	chr5:29500922-29500923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554827654	chr5:29500956-29500957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184562337	chr5:29500961-29500962	Weak transcription	n/a	n/a	Overlapped CNVs	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:2 , 50 per page) page: 1

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

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