Variant report

Variant	nsv976814
Chromosome Location	chr14:63192257-63202004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542606497	chr14:63192276-63192277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572939212	chr14:63192283-63192284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145880226	chr14:63192285-63192286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374841797	chr14:63192290-63192291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566013728	chr14:63192292-63192293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552094387	chr14:63192325-63192326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571732503	chr14:63192334-63192335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541550429	chr14:63192393-63192394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184679756	chr14:63192463-63192464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547605922	chr14:63192470-63192471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567388219	chr14:63192473-63192474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536354854	chr14:63192486-63192487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190307841	chr14:63192585-63192586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193289430	chr14:63192611-63192612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59922498	chr14:63192678-63192679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370677543	chr14:63192683-63192684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7153794	chr14:63192744-63192745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138252635	chr14:63192795-63192796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558063737	chr14:63192806-63192807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577738618	chr14:63192830-63192831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74694366	chr14:63192849-63192850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184224912	chr14:63192850-63192851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548431090	chr14:63192897-63192898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189027856	chr14:63192913-63192914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397897394	chr14:63192945-63192946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2101552	chr14:63192948-63192949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562336530	chr14:63192949-63192950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181041592	chr14:63192994-63192995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146856143	chr14:63196416-63196417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368913972	chr14:63196417-63196418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547918413	chr14:63196481-63196482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568029941	chr14:63196553-63196554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536615064	chr14:63196560-63196561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550566659	chr14:63196561-63196562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571017558	chr14:63196700-63196701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369713735	chr14:63196745-63196746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532879108	chr14:63196799-63196800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74058950	chr14:63196816-63196817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531454095	chr14:63196904-63196905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573516492	chr14:63196924-63196925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140656098	chr14:63196984-63196985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535937167	chr14:63196987-63196988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75479279	chr14:63196998-63196999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185475799	chr14:63197042-63197043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575711680	chr14:63197072-63197073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189504214	chr14:63197117-63197118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558141015	chr14:63197150-63197151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181448080	chr14:63197175-63197176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144551342	chr14:63197176-63197177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146635488	chr14:63197187-63197188	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63178600-63193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:63196400-63197200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:63200800-63202200	Enhancers	NHEK	skin
4	chr14:63200800-63203000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:63201000-63202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:63201000-63202800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:63201000-63203400	Enhancers	HMEC	breast
8	chr14:63201800-63202400	Enhancers	Hela-S3	cervix
9	chr14:63201800-63206200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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