Variant report

Variant	nsv1054605
Chromosome Location	chr14:42693725-42727525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:42693266..42693778-chr14:43474779..43475522,2	MCF-7	breast:
2	chr14:42676503..42678368-chr14:42692363..42693936,2	MCF-7	breast:
3	chr14:42706583..42708202-chr2:154103638..154105159,2	MCF-7	breast:
4	chr14:42716738..42718328-chr8:110964082..110966975,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1892385	chr14:42693725-42693726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143177060	chr14:42693733-42693734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185183848	chr14:42693816-42693817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574026112	chr14:42693820-42693821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140159712	chr14:42693905-42693906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368228279	chr14:42693909-42693910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543443637	chr14:42693958-42693959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113608637	chr14:42693984-42693985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553058885	chr14:42693985-42693986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541313217	chr14:42693996-42693997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559568578	chr14:42693997-42693998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565770739	chr14:42698005-42698006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12895935	chr14:42698006-42698007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138472986	chr14:42698049-42698050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187106556	chr14:42698053-42698054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527959799	chr14:42698076-42698077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552773718	chr14:42698089-42698090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570950066	chr14:42698143-42698144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538773446	chr14:42698150-42698151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550408315	chr14:42698157-42698158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568573702	chr14:42698161-42698162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535865722	chr14:42698169-42698170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554120877	chr14:42698198-42698199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374549564	chr14:42698204-42698205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533836421	chr14:42698276-42698277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61993290	chr14:42698282-42698283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61993291	chr14:42698292-42698293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544352045	chr14:42698312-42698313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115088953	chr14:42698329-42698330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574961062	chr14:42698381-42698382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542274567	chr14:42698425-42698426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557345499	chr14:42698464-42698465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76058409	chr14:42698492-42698493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11157271	chr14:42698548-42698549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189587199	chr14:42698566-42698567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144098509	chr14:42698583-42698584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182275651	chr14:42698601-42698602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11157272	chr14:42698622-42698623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568638579	chr14:42698627-42698628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535926461	chr14:42698628-42698629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73322937	chr14:42698649-42698650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566341656	chr14:42698682-42698683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1027684	chr14:42698704-42698705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74046298	chr14:42698706-42698707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577030380	chr14:42698774-42698775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188872469	chr14:42698786-42698787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377724780	chr14:42698787-42698788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141399092	chr14:42698834-42698835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542053443	chr14:42698843-42698844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150819119	chr14:42698853-42698854	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42691400-42693800	Enhancers	NHDF-Ad	bronchial
2	chr14:42691400-42694000	Enhancers	Primary B cells from cord blood	blood
3	chr14:42693200-42693800	Enhancers	GM12878-XiMat	blood
4	chr14:42698000-42699000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:42718000-42718400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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