Variant report

Variant	nsv565369
Chromosome Location	chr14:83822726-83871553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
2	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
3	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
4	chr14:83846964..83847609-chr9:125714705..125715642,2	MCF-7	breast:

Extended variants
information (count: 225 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11852029	chr14:83822726-83822727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573989141	chr14:83822754-83822755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs137966678	chr14:83822791-83822792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115329482	chr14:83822858-83822859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548753287	chr14:83822897-83822898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545455084	chr14:83822974-83822975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569365953	chr14:83822995-83822996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527718796	chr14:83823003-83823004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142064746	chr14:83823015-83823016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561966126	chr14:83823020-83823021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201887383	chr14:83823070-83823071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529163248	chr14:83823086-83823087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536658877	chr14:83823107-83823108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550811468	chr14:83823183-83823184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192381080	chr14:83823241-83823242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57445864	chr14:83823256-83823257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551491117	chr14:83823261-83823262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566433583	chr14:83823343-83823344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533828031	chr14:83823370-83823371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74264037	chr14:83823371-83823372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183784357	chr14:83823372-83823373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397731771	chr14:83823378-83823379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144171320	chr14:83823416-83823417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188268848	chr14:83823420-83823421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556359060	chr14:83823423-83823424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181403536	chr14:83823432-83823433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145734630	chr14:83823444-83823445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545255919	chr14:83823458-83823459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138375072	chr14:83823483-83823484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572403141	chr14:83823484-83823485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543018343	chr14:83823488-83823489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57669609	chr14:83823492-83823493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186452356	chr14:83823499-83823500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538527986	chr14:83823514-83823515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557133757	chr14:83823553-83823554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544548455	chr14:83823562-83823563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190104546	chr14:83823599-83823600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533197556	chr14:83823637-83823638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182067413	chr14:83823643-83823644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566562524	chr14:83823726-83823727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186600728	chr14:83823728-83823729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190935445	chr14:83823752-83823753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566893973	chr14:83823769-83823770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183080132	chr14:83823782-83823783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556472977	chr14:83823809-83823810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571837947	chr14:83823831-83823832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539226909	chr14:83823845-83823846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149252845	chr14:83823849-83823850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185264355	chr14:83823857-83823858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562216162	chr14:83823869-83823870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83820600-83825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:83822400-83823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:83823600-83823800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:83827200-83828000	Enhancers	Ovary	ovary
5	chr14:83834600-83835200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:83834800-83835200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:83844800-83846400	Enhancers	Fetal Stomach	stomach
8	chr14:83845000-83846600	Enhancers	Fetal Lung	lung
9	chr14:83845600-83846200	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:83845600-83846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:83845600-83846400	Enhancers	Adipose Nuclei	Adipose
12	chr14:83845600-83846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:83845800-83846400	Enhancers	Fetal Brain Female	brain
14	chr14:83845800-83846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:83845800-83846800	Enhancers	Brain Germinal Matrix	brain
16	chr14:83869800-83870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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