Variant report

Variant	esv20063
Chromosome Location	chr14:80653033-80654322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 70 )

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	rs11273272	chr14:80653037-80653038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76431384	chr14:80653038-80653039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201620525	chr14:80653040-80653041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573465569	chr14:80653064-80653065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs224968	chr14:80653076-80653077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372909543	chr14:80653112-80653113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575396738	chr14:80653113-80653114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143561433	chr14:80653127-80653128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372776706	chr14:80653129-80653130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112319172	chr14:80653131-80653132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs224969	chr14:80653144-80653145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548976080	chr14:80653171-80653172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs224970	chr14:80653179-80653180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187050049	chr14:80653185-80653186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532472188	chr14:80653225-80653226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145757154	chr14:80653253-80653254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563783858	chr14:80653281-80653282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569107028	chr14:80653289-80653290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112670817	chr14:80653295-80653296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548314917	chr14:80653301-80653302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138693450	chr14:80653313-80653314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs224971	chr14:80653332-80653333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150734455	chr14:80653380-80653381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191947921	chr14:80653383-80653384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183754805	chr14:80653385-80653386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558808545	chr14:80653394-80653395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377508588	chr14:80653415-80653416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137990797	chr14:80653418-80653419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538050381	chr14:80653445-80653446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149607583	chr14:80653455-80653456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188483488	chr14:80653477-80653478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144353091	chr14:80653478-80653479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376005538	chr14:80653508-80653509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560301257	chr14:80653509-80653510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577294268	chr14:80653537-80653538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193237827	chr14:80653557-80653558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185714245	chr14:80653575-80653576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528801685	chr14:80653630-80653631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188264682	chr14:80653648-80653649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548094492	chr14:80653705-80653706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551930362	chr14:80653737-80653738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527414510	chr14:80653744-80653745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547432583	chr14:80653752-80653753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111439759	chr14:80653781-80653782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183999654	chr14:80653837-80653838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs224972	chr14:80653840-80653841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569198042	chr14:80653851-80653852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538490110	chr14:80653865-80653866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10144634	chr14:80653871-80653872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547927325	chr14:80653917-80653918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80652200-80653800	Enhancers	Placenta	Placenta
2	chr14:80653800-80654600	Weak transcription	Placenta	Placenta

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