Variant report

Variant	esv3486872
Chromosome Location	chr14:46601715-46608931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143662974	chr14:46605055-46605056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564774362	chr14:46605131-46605132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145721862	chr14:46605169-46605170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550119259	chr14:46605193-46605194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545593009	chr14:46605214-46605215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200735888	chr14:46605288-46605289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564188337	chr14:46605291-46605292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568260922	chr14:46605300-46605301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181553500	chr14:46605382-46605383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537482324	chr14:46605459-46605460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533031139	chr14:46605464-46605465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535056768	chr14:46605490-46605491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186517243	chr14:46605535-46605536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114443175	chr14:46605541-46605542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143515703	chr14:46605552-46605553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570983596	chr14:46605611-46605612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148917273	chr14:46605684-46605685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557363744	chr14:46605760-46605761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553156345	chr14:46605824-46605825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536728964	chr14:46605856-46605857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191465779	chr14:46605879-46605880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560091830	chr14:46605885-46605886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573391651	chr14:46605895-46605896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554506706	chr14:46605915-46605916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572989462	chr14:46605995-46605996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540006397	chr14:46606004-46606005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181111377	chr14:46606023-46606024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186176521	chr14:46606030-46606031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190649500	chr14:46606033-46606034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34682373	chr14:46606092-46606093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397688311	chr14:46606102-46606103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535629350	chr14:46606198-46606199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562120839	chr14:46606261-46606262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142225941	chr14:46606273-46606274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151232869	chr14:46606293-46606294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73236339	chr14:46606306-46606307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575525116	chr14:46606341-46606342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559946338	chr14:46606349-46606350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201533933	chr14:46606355-46606356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1347881	chr14:46606376-46606377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546847080	chr14:46606474-46606475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529212938	chr14:46606522-46606523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571931445	chr14:46606523-46606524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140272901	chr14:46606524-46606525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183523246	chr14:46606527-46606528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532833393	chr14:46606543-46606544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551029855	chr14:46606548-46606549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569266719	chr14:46606580-46606581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536788986	chr14:46606610-46606611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3098490	chr14:46606694-46606695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46605000-46605400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:46605200-46607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:46605200-46607400	Enhancers	HUVEC	blood vessel
4	chr14:46605400-46606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:46605600-46606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:46605800-46607800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:46607400-46609000	Weak transcription	HUVEC	blood vessel

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