Variant report

Variant	esv3391328
Chromosome Location	chr14:66809399-66811947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114611421	chr14:66809414-66809415	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542918542	chr14:66809486-66809487	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145031999	chr14:66809489-66809490	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557202191	chr14:66809547-66809548	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541056941	chr14:66809563-66809564	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192418279	chr14:66809663-66809664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570613927	chr14:66809687-66809688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373335593	chr14:66809692-66809693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184608898	chr14:66809698-66809699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559406612	chr14:66809713-66809714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552835744	chr14:66809742-66809743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374658028	chr14:66809766-66809767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36091391	chr14:66809767-66809768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572881847	chr14:66809768-66809769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28521841	chr14:66809799-66809800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555313629	chr14:66809816-66809817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72722483	chr14:66809834-66809835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543664762	chr14:66809960-66809961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563541748	chr14:66809998-66809999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532613824	chr14:66810046-66810047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531052947	chr14:66810070-66810071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200336966	chr14:66810085-66810086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10143013	chr14:66810089-66810090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559624933	chr14:66810117-66810118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67227265	chr14:66810138-66810139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563805476	chr14:66810173-66810174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56003693	chr14:66810182-66810183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530379309	chr14:66810184-66810185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374978187	chr14:66810280-66810281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370768003	chr14:66810281-66810282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57525517	chr14:66810294-66810295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28520346	chr14:66810331-66810332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368934821	chr14:66810334-66810335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529285895	chr14:66810342-66810343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373945414	chr14:66810343-66810344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10143446	chr14:66810344-66810345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10143448	chr14:66810346-66810347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553766532	chr14:66810348-66810349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141926756	chr14:66810350-66810351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565424580	chr14:66810355-66810356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550943701	chr14:66810398-66810399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35533940	chr14:66810399-66810400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188238317	chr14:66810406-66810407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35350940	chr14:66810410-66810411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116511110	chr14:66810449-66810450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192680245	chr14:66810505-66810506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371016038	chr14:66810601-66810602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566464274	chr14:66810618-66810619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371777214	chr14:66810645-66810646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374551513	chr14:66810646-66810647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66797800-66811800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:66808800-66809400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:66809000-66809600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:66809200-66809600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:66809400-66809600	Enhancers	Hela-S3	cervix
6	chr14:66809400-66809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:66809600-66811000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:66811000-66812800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:66811800-66814000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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