Variant report

Variant	esv1849096
Chromosome Location	chr14:80649325-80654009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556565836	chr14:80652212-80652213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140606619	chr14:80652248-80652249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537247640	chr14:80652251-80652252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187087036	chr14:80652310-80652311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555416853	chr14:80652349-80652350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150022656	chr14:80652350-80652351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573889323	chr14:80652366-80652367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192206116	chr14:80652403-80652404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544268762	chr14:80652422-80652423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145250896	chr14:80652428-80652429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541139177	chr14:80652430-80652431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546899840	chr14:80652437-80652438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34987363	chr14:80652513-80652514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148866887	chr14:80652584-80652585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532407953	chr14:80652647-80652648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199646956	chr14:80652666-80652667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35973322	chr14:80652670-80652671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552405244	chr14:80652671-80652672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529160214	chr14:80652697-80652698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184047567	chr14:80652787-80652788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186055940	chr14:80652791-80652792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537955683	chr14:80652823-80652824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189900722	chr14:80652839-80652840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182377484	chr14:80652913-80652914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577960953	chr14:80652943-80652944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533551623	chr14:80652979-80652980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545182581	chr14:80653026-80653027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11273272	chr14:80653037-80653038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76431384	chr14:80653038-80653039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201620525	chr14:80653040-80653041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573465569	chr14:80653064-80653065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs224968	chr14:80653076-80653077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372909543	chr14:80653112-80653113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575396738	chr14:80653113-80653114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143561433	chr14:80653127-80653128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372776706	chr14:80653129-80653130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112319172	chr14:80653131-80653132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs224969	chr14:80653144-80653145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548976080	chr14:80653171-80653172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs224970	chr14:80653179-80653180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187050049	chr14:80653185-80653186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532472188	chr14:80653225-80653226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145757154	chr14:80653253-80653254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563783858	chr14:80653281-80653282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569107028	chr14:80653289-80653290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112670817	chr14:80653295-80653296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548314917	chr14:80653301-80653302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138693450	chr14:80653313-80653314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs224971	chr14:80653332-80653333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150734455	chr14:80653380-80653381	Enhancers	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
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
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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