Variant report

Variant	esv2081127
Chromosome Location	chr14:83635643-83636691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370630331	chr14:83635647-83635648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551643692	chr14:83635662-83635663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8009891	chr14:83635689-83635690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527758032	chr14:83635697-83635698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373916056	chr14:83635723-83635724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397947860	chr14:83635729-83635730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386779388	chr14:83635730-83635731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60746423	chr14:83635731-83635732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190501856	chr14:83635775-83635776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138841180	chr14:83635787-83635788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77651387	chr14:83635789-83635790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1902571	chr14:83635790-83635791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187377599	chr14:83635802-83635803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556600204	chr14:83635826-83635827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1902570	chr14:83635830-83635831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75333337	chr14:83635851-83635852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398070561	chr14:83635853-83635854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59457698	chr14:83635854-83635855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77875783	chr14:83635855-83635856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57636834	chr14:83635858-83635859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200594721	chr14:83635861-83635862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200990405	chr14:83635869-83635870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76351458	chr14:83635886-83635887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374254790	chr14:83635887-83635888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112407918	chr14:83635925-83635926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201619368	chr14:83635963-83635964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28397042	chr14:83636021-83636022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374487051	chr14:83636223-83636224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367709896	chr14:83636229-83636230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370078359	chr14:83636319-83636320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374303684	chr14:83636354-83636355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61984582	chr14:83636361-83636362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78459259	chr14:83636398-83636399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78172448	chr14:83636460-83636461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569015891	chr14:83636461-83636462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75807896	chr14:83636463-83636464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371931764	chr14:83636483-83636484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141769923	chr14:83636498-83636499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114787027	chr14:83636501-83636502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7152994	chr14:83636517-83636518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150173095	chr14:83636568-83636569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28410325	chr14:83636576-83636577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192214951	chr14:83636631-83636632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568622890	chr14:83636649-83636650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371582264	chr14:83636657-83636658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112673577	chr14:83636675-83636676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543761301	chr14:83636677-83636678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83631000-83638600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:83633000-83638200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:83634600-83636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:83636400-83636600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:83636400-83637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:83636600-83636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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