Variant report

Variant	esv3357488
Chromosome Location	chr14:83291024-83293572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73355432	chr14:83291457-83291458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535562169	chr14:83291461-83291462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556959161	chr14:83291517-83291518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568876350	chr14:83291525-83291526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539483645	chr14:83291569-83291570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367964768	chr14:83291581-83291582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558416252	chr14:83291616-83291617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548823988	chr14:83291631-83291632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540798272	chr14:83291649-83291650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182668585	chr14:83291678-83291679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187520920	chr14:83291707-83291708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577177327	chr14:83291752-83291753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567653328	chr14:83292674-83292675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538027111	chr14:83292714-83292715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144583440	chr14:83292723-83292724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192443703	chr14:83292757-83292758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538764120	chr14:83292774-83292775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554086452	chr14:83292780-83292781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560895065	chr14:83292804-83292805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182058410	chr14:83292828-83292829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543051106	chr14:83292856-83292857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145468791	chr14:83292857-83292858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186273316	chr14:83292940-83292941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544394219	chr14:83292980-83292981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370820822	chr14:83293005-83293006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533005642	chr14:83293008-83293009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529432805	chr14:83293045-83293046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117727118	chr14:83293072-83293073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111545960	chr14:83293111-83293112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190592084	chr14:83293118-83293119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112329460	chr14:83293139-83293140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567590658	chr14:83293160-83293161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531896967	chr14:83293186-83293187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549919459	chr14:83293238-83293239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571508019	chr14:83293241-83293242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113146709	chr14:83293298-83293299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115346991	chr14:83293320-83293321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182707643	chr14:83293356-83293357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536233394	chr14:83293376-83293377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555026373	chr14:83293409-83293410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187032793	chr14:83293419-83293420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17117436	chr14:83293487-83293488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148996483	chr14:83293503-83293504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566085122	chr14:83293535-83293536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368595673	chr14:83293537-83293538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83291400-83291600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr14:83291400-83291800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:83292600-83293000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:83292600-83293200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:83292600-83293600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:83292800-83293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:83292800-83295000	Enhancers	Brain Germinal Matrix	brain
8	chr14:83293000-83293200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:83293200-83294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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