Variant report

Variant	nsv512365
Chromosome Location	chr14:71320320-71323044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142914441	chr14:71320324-71320325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577348450	chr14:71320348-71320349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570946811	chr14:71320388-71320389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538446613	chr14:71320393-71320394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184198763	chr14:71320430-71320431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71425222	chr14:71320449-71320450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112369912	chr14:71320466-71320467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111847028	chr14:71320550-71320551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140166621	chr14:71320580-71320581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67994784	chr14:71320629-71320630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563886898	chr14:71320711-71320712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189901235	chr14:71320720-71320721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528402250	chr14:71320749-71320750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12895062	chr14:71320797-71320798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529209722	chr14:71320832-71320833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34553694	chr14:71320920-71320921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529436952	chr14:71320976-71320977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200816352	chr14:71320979-71320980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540113735	chr14:71321006-71321007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201494453	chr14:71321123-71321124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540992962	chr14:71321226-71321227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559580574	chr14:71321245-71321246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200661958	chr14:71321249-71321250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201391397	chr14:71321250-71321251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199756079	chr14:71321252-71321253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200878708	chr14:71321253-71321254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565004931	chr14:71321270-71321271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558984189	chr14:71321274-71321275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552600031	chr14:71321302-71321303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570969306	chr14:71321303-71321304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373095942	chr14:71321307-71321308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146410530	chr14:71321337-71321338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140790292	chr14:71321376-71321377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532352426	chr14:71321379-71321380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181052788	chr14:71321406-71321407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536031778	chr14:71321452-71321453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10130225	chr14:71321453-71321454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569335195	chr14:71321509-71321510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369192572	chr14:71321529-71321530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534972263	chr14:71321543-71321544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551426427	chr14:71321568-71321569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554209965	chr14:71321745-71321746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149700360	chr14:71321768-71321769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539067514	chr14:71321811-71321812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571117066	chr14:71321936-71321937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527447051	chr14:71321955-71321956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557289418	chr14:71321965-71321966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575747185	chr14:71321967-71321968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59943463	chr14:71321998-71321999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185463471	chr14:71322024-71322025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71310200-71323000	Weak transcription	HSMMtube	muscle
2	chr14:71322600-71324600	Enhancers	HMEC	breast
3	chr14:71322800-71324600	Enhancers	HSMM	muscle
4	chr14:71322800-71324800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:71323000-71324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:71323000-71324600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:71323000-71324600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:71323000-71324600	Enhancers	HSMMtube	muscle
9	chr14:71323000-71324600	Enhancers	NH-A	brain
10	chr14:71323000-71324800	Enhancers	NHEK	skin

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