Variant report

Variant	esv3338955
Chromosome Location	chr14:79392599-79393997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553682596	chr14:79392627-79392628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192737294	chr14:79392660-79392661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116869849	chr14:79392708-79392709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112207680	chr14:79392768-79392769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551658463	chr14:79392929-79392930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558811925	chr14:79392941-79392942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370715020	chr14:79392942-79392943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147505847	chr14:79392953-79392954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553060436	chr14:79392956-79392957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111621767	chr14:79392972-79392973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563576756	chr14:79392997-79392998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564802003	chr14:79392999-79393000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550245633	chr14:79393035-79393036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567049752	chr14:79393040-79393041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183159909	chr14:79393043-79393044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186757698	chr14:79393047-79393048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565650927	chr14:79393064-79393065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191223171	chr14:79393081-79393082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537248291	chr14:79393095-79393096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555580204	chr14:79393103-79393104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566269935	chr14:79393115-79393116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534957331	chr14:79393118-79393119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558444732	chr14:79393126-79393127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369031895	chr14:79393230-79393231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534588267	chr14:79393303-79393304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577921559	chr14:79393317-79393318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184851745	chr14:79393319-79393320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543867692	chr14:79393323-79393324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557491503	chr14:79393325-79393326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574227960	chr14:79393327-79393328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535595516	chr14:79393332-79393333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538247372	chr14:79393424-79393425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543155580	chr14:79393427-79393428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559236503	chr14:79393447-79393448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140124749	chr14:79393467-79393468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544940307	chr14:79393468-79393469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546385554	chr14:79393493-79393494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74069214	chr14:79393552-79393553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189319276	chr14:79393614-79393615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550207171	chr14:79393625-79393626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567012078	chr14:79393636-79393637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193210103	chr14:79393708-79393709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546290201	chr14:79393716-79393717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143071989	chr14:79393803-79393804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535233198	chr14:79393853-79393854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151117253	chr14:79393874-79393875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571957927	chr14:79393899-79393900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537435666	chr14:79393906-79393907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557353402	chr14:79393918-79393919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139671130	chr14:79393954-79393955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Basal cell lymphoma	17053054	CNVD
cataract	16735990	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	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
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79391800-79392600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:79391800-79392600	Enhancers	Brain Germinal Matrix	brain
3	chr14:79392400-79394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:79393600-79393800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:79393600-79394000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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