Variant report

Variant	nsv596905
Chromosome Location	chr5:2053049-2064566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
2	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
3	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:

Extended variants
information (count: 542 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:542 , 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	rs10055143	chr5:2053049-2053050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527610948	chr5:2053050-2053051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186601744	chr5:2053071-2053072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562129699	chr5:2053072-2053073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12518254	chr5:2053094-2053095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34305401	chr5:2053101-2053102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551056803	chr5:2053122-2053123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569414906	chr5:2053138-2053139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533562621	chr5:2053139-2053140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142702791	chr5:2053157-2053158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567155077	chr5:2053169-2053170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10055267	chr5:2053188-2053189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555032944	chr5:2053192-2053193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10055271	chr5:2053218-2053219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10070010	chr5:2053239-2053240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553296377	chr5:2053241-2053242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375864093	chr5:2053268-2053269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193279096	chr5:2053323-2053324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578211236	chr5:2053327-2053328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185532687	chr5:2053343-2053344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538426789	chr5:2053351-2053352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147375986	chr5:2053395-2053396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11950778	chr5:2053443-2053444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542930332	chr5:2053465-2053466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4331940	chr5:2053475-2053476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573968091	chr5:2053531-2053532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544326779	chr5:2053541-2053542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562947344	chr5:2053571-2053572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533497886	chr5:2053600-2053601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188809363	chr5:2053660-2053661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114594407	chr5:2053690-2053691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192815984	chr5:2053696-2053697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549658389	chr5:2053750-2053751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567907601	chr5:2053761-2053762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537847816	chr5:2053764-2053765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184264703	chr5:2053806-2053807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570996369	chr5:2053811-2053812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201037331	chr5:2053824-2053825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538363546	chr5:2053833-2053834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553523847	chr5:2053853-2053854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188549981	chr5:2053881-2053882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139607762	chr5:2053917-2053918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554844841	chr5:2053963-2053964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371361047	chr5:2054018-2054019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142602946	chr5:2054024-2054025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544601578	chr5:2054030-2054031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562884519	chr5:2054031-2054032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4975836	chr5:2054032-2054033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60592128	chr5:2054052-2054053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181208141	chr5:2054089-2054090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	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
Breast cancer	21364760	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2046000-2056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:2056800-2057200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:2057200-2059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:2059400-2060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:2060000-2060800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:2060400-2060800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:2060400-2060800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr5:2060800-2065400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:2060800-2066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:2064400-2064600	Bivalent/Poised TSS	Hela-S3	cervix

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