Variant report

Variant	nsv983977
Chromosome Location	chr14:62966317-62970762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532414786	chr14:62966335-62966336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199511260	chr14:62966337-62966338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145064241	chr14:62966338-62966339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386778195	chr14:62966339-62966340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559412880	chr14:62966340-62966341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59351591	chr14:62966344-62966345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560291073	chr14:62966350-62966351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55806253	chr14:62966354-62966355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573939573	chr14:62966386-62966387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528252870	chr14:62966395-62966396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542771466	chr14:62966424-62966425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111898495	chr14:62966428-62966429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77949997	chr14:62966433-62966434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55742908	chr14:62966446-62966447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138192098	chr14:62966453-62966454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149516814	chr14:62966462-62966463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564086196	chr14:62966493-62966494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533059260	chr14:62966530-62966531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114579300	chr14:62966550-62966551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548387394	chr14:62966581-62966582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566358082	chr14:62966590-62966591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1565346	chr14:62966608-62966609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376149650	chr14:62966611-62966612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548830842	chr14:62966618-62966619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79718952	chr14:62966630-62966631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568960999	chr14:62966734-62966735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549231573	chr14:62966743-62966744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10145411	chr14:62966803-62966804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568286369	chr14:62966853-62966854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558382489	chr14:62966858-62966859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578184124	chr14:62966865-62966866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569689864	chr14:62966879-62966880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534235588	chr14:62966971-62966972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76762739	chr14:62967057-62967058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537138434	chr14:62967073-62967074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573972748	chr14:62967098-62967099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542987349	chr14:62967110-62967111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190667198	chr14:62967119-62967120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76150291	chr14:62967142-62967143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545052772	chr14:62967216-62967217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563948544	chr14:62967252-62967253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532925570	chr14:62967265-62967266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540177575	chr14:62967272-62967273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560371130	chr14:62967273-62967274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181476498	chr14:62967282-62967283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539063786	chr14:62967290-62967291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534726991	chr14:62967299-62967300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569022646	chr14:62967357-62967358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530776590	chr14:62967369-62967370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80143772	chr14:62967398-62967399	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62965200-62967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:62967200-62968800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:62967200-62969200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:62967600-62968200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:62969200-62975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:62969800-62970000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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