Variant report

Variant	esv3488410
Chromosome Location	chr14:45829992-45831471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74737269	chr14:45830421-45830422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568514438	chr14:45830497-45830498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145961591	chr14:45830524-45830525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561970541	chr14:45830528-45830529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17116033	chr14:45830623-45830624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139875505	chr14:45830670-45830671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149661881	chr14:45830690-45830691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533637544	chr14:45830714-45830715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557643082	chr14:45830722-45830723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552015610	chr14:45830745-45830746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563855934	chr14:45830867-45830868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185346506	chr14:45830876-45830877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568648097	chr14:45830914-45830915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370167997	chr14:45830938-45830939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540134936	chr14:45830939-45830940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553977836	chr14:45830997-45830998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145474505	chr14:45831020-45831021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77331805	chr14:45831061-45831062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546233695	chr14:45831099-45831100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571230437	chr14:45831103-45831104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116120918	chr14:45831109-45831110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148584593	chr14:45831127-45831128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188471498	chr14:45831132-45831133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192727818	chr14:45831192-45831193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117182511	chr14:45831244-45831245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184742902	chr14:45831246-45831247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541435461	chr14:45831343-45831344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142995731	chr14:45831344-45831345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188369738	chr14:45831380-45831381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151118842	chr14:45831462-45831463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112163699	chr14:45831464-45831465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531123398	chr14:45831465-45831466	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45830400-45831600	Enhancers	Fetal Heart	heart

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