Variant report

Variant	nsv983783
Chromosome Location	chr14:78819188-78821104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568480304	chr14:78819294-78819295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78760976	chr14:78819332-78819333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147144796	chr14:78819375-78819376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568331387	chr14:78819385-78819386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374557905	chr14:78819406-78819407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574378495	chr14:78819410-78819411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533790906	chr14:78819413-78819414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77091599	chr14:78819460-78819461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573374365	chr14:78819465-78819466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545474690	chr14:78819472-78819473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559005045	chr14:78819477-78819478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575679968	chr14:78819516-78819517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76308861	chr14:78819541-78819542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34005817	chr14:78819546-78819547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188985235	chr14:78819550-78819551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113458064	chr14:78819553-78819554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142741943	chr14:78819570-78819571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61976048	chr14:78819621-78819622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78869739	chr14:78819632-78819633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144520772	chr14:78819644-78819645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532711023	chr14:78819707-78819708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548161478	chr14:78819781-78819782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551181495	chr14:78819813-78819814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551210208	chr14:78819834-78819835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534043549	chr14:78819852-78819853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547280551	chr14:78819863-78819864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148557675	chr14:78819875-78819876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181900319	chr14:78819895-78819896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559120564	chr14:78819977-78819978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186217278	chr14:78819980-78819981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142928067	chr14:78819995-78819996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543772407	chr14:78819997-78819998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575041246	chr14:78820038-78820039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540888127	chr14:78820070-78820071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189125092	chr14:78820082-78820083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560337217	chr14:78820097-78820098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74685622	chr14:78820130-78820131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181467109	chr14:78820185-78820186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10135475	chr14:78820214-78820215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144282140	chr14:78820311-78820312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531436686	chr14:78820327-78820328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547882101	chr14:78820365-78820366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561683244	chr14:78820377-78820378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527604242	chr14:78820423-78820424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547640276	chr14:78820430-78820431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570736800	chr14:78820439-78820440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151104267	chr14:78820499-78820500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186497100	chr14:78820517-78820518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78056490	chr14:78820540-78820541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74064062	chr14:78820564-78820565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78813800-78820200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:78814600-78825600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:78819400-78822200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:78820200-78826000	Enhancers	Brain Germinal Matrix	brain
5	chr14:78820800-78821200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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