Variant report

Variant	esv3432360
Chromosome Location	chr14:84844449-84846347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116357871	chr14:84844499-84844500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560051966	chr14:84844506-84844507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572060739	chr14:84844513-84844514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542681111	chr14:84844568-84844569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73370965	chr14:84844576-84844577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538174625	chr14:84844583-84844584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150414930	chr14:84844614-84844615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543356317	chr14:84844623-84844624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138913002	chr14:84844625-84844626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192477692	chr14:84844627-84844628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551494905	chr14:84844643-84844644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4904174	chr14:84844645-84844646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532909195	chr14:84844646-84844647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527810157	chr14:84844726-84844727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75549980	chr14:84844755-84844756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142857166	chr14:84844847-84844848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371388047	chr14:84844848-84844849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567898497	chr14:84844881-84844882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538438387	chr14:84844898-84844899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12432108	chr14:84844954-84844955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535492829	chr14:84845023-84845024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183421650	chr14:84845036-84845037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201619096	chr14:84845063-84845064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201496693	chr14:84845069-84845070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34222432	chr14:84845157-84845158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71110980	chr14:84845158-84845159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543787843	chr14:84845159-84845160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531432333	chr14:84845166-84845167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71936402	chr14:84845167-84845168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200955897	chr14:84845172-84845173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398118451	chr14:84845174-84845175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4265741	chr14:84845186-84845187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139617978	chr14:84845208-84845209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199793840	chr14:84845214-84845215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200870210	chr14:84845221-84845222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71908900	chr14:84845222-84845223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12887413	chr14:84845223-84845224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149513173	chr14:84845232-84845233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58298098	chr14:84845233-84845234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3122925	chr14:84845249-84845250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372109461	chr14:84845250-84845251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12887439	chr14:84845251-84845252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187313323	chr14:84845322-84845323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77839303	chr14:84845362-84845363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193181999	chr14:84845464-84845465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543216191	chr14:84845518-84845519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564697062	chr14:84845532-84845533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148651177	chr14:84845543-84845544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541292358	chr14:84845574-84845575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111351273	chr14:84845606-84845607	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84842200-84845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:84843200-84844800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:84845600-84846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:84845600-84846000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:84845600-84846200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:84845800-84846200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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