Variant report

Variant	nsv965549
Chromosome Location	chr5:43877737-43886194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 307 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145179418	chr5:43877780-43877781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139008862	chr5:43877792-43877793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368304942	chr5:43877796-43877797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184454183	chr5:43877811-43877812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189605766	chr5:43877860-43877861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553080156	chr5:43877896-43877897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572987092	chr5:43877899-43877900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149469993	chr5:43877905-43877906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565134250	chr5:43877925-43877926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555866906	chr5:43877931-43877932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72762325	chr5:43877971-43877972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544897247	chr5:43877997-43877998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376645748	chr5:43878003-43878004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181968616	chr5:43878028-43878029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530520519	chr5:43878071-43878072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200758113	chr5:43878098-43878099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528903719	chr5:43878111-43878112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184569003	chr5:43878239-43878240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565811865	chr5:43878274-43878275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13159427	chr5:43878298-43878299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189008882	chr5:43878304-43878305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376102738	chr5:43878353-43878354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549104773	chr5:43878371-43878372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10061100	chr5:43878415-43878416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112508860	chr5:43878486-43878487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143846945	chr5:43878540-43878541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148222482	chr5:43878629-43878630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141184465	chr5:43878660-43878661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376906512	chr5:43878745-43878746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552939493	chr5:43878767-43878768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147373170	chr5:43878865-43878866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546046892	chr5:43878866-43878867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567138512	chr5:43878887-43878888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139701693	chr5:43878898-43878899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538749774	chr5:43878929-43878930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558739852	chr5:43878980-43878981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112425730	chr5:43878985-43878986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544449461	chr5:43878986-43878987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576413960	chr5:43879005-43879006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368965898	chr5:43879008-43879009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13184624	chr5:43879071-43879072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372057270	chr5:43879106-43879107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562201821	chr5:43879170-43879171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575168256	chr5:43879207-43879208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376604896	chr5:43879244-43879245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542682114	chr5:43879261-43879262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559397189	chr5:43879286-43879287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528053249	chr5:43879292-43879293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529364679	chr5:43879299-43879300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551518401	chr5:43879384-43879385	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43875400-43878600	Weak transcription	Fetal Lung	lung
2	chr5:43876200-43879000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:43878600-43879200	Enhancers	Fetal Lung	lung
4	chr5:43879000-43879600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:43879600-43885200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:43880200-43880400	Enhancers	Fetal Heart	heart
7	chr5:43885200-43885600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:43885200-43886800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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