Variant report

Variant	esv2527141
Chromosome Location	chr14:78249088-78250974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541606768	chr14:78249121-78249122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187842402	chr14:78249124-78249125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192280269	chr14:78249136-78249137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534957455	chr14:78249240-78249241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551671621	chr14:78249280-78249281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556559368	chr14:78249287-78249288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116175328	chr14:78249292-78249293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557315637	chr14:78249304-78249305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573668202	chr14:78249412-78249413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148523809	chr14:78249418-78249419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201247538	chr14:78249434-78249435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368832107	chr14:78249435-78249436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114963769	chr14:78249436-78249437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79625378	chr14:78249437-78249438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79305373	chr14:78249438-78249439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552978942	chr14:78249447-78249448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529033666	chr14:78249458-78249459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4641655	chr14:78249475-78249476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs375912348	chr14:78249505-78249506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78823490	chr14:78249524-78249525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142858202	chr14:78249660-78249661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575495953	chr14:78249673-78249674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544386626	chr14:78249697-78249698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184611716	chr14:78249753-78249754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529327790	chr14:78249755-78249756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199942815	chr14:78249773-78249774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28515143	chr14:78249774-78249775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528467383	chr14:78249775-78249776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34534085	chr14:78249776-78249777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74662008	chr14:78249777-78249778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36001507	chr14:78249795-78249796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4635269	chr14:78249870-78249871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs139441682	chr14:78249875-78249876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149176748	chr14:78249879-78249880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4570764	chr14:78249881-78249882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11622201	chr14:78249907-78249908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11622289	chr14:78249911-78249912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11622202	chr14:78249918-78249919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551740535	chr14:78249919-78249920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12885050	chr14:78249927-78249928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192726089	chr14:78249943-78249944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184681915	chr14:78249946-78249947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189360516	chr14:78249956-78249957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536092419	chr14:78249976-78249977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113498568	chr14:78250121-78250122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372900348	chr14:78250134-78250135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149658148	chr14:78250271-78250272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376903020	chr14:78250359-78250360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180806070	chr14:78250413-78250414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551136494	chr14:78250439-78250440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	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
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78247600-78249400	Enhancers	GM12878-XiMat	blood
2	chr14:78248800-78252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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