Variant report

Variant	nsv433530
Chromosome Location	chr14:80346670-80357074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:80354453..80356019-chr14:80356530..80358902,2	MCF-7	breast:
2	chr14:80354453..80356019-chr14:80356530..80358902,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 62 )

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	rs10141936	chr14:80346670-80346671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533921752	chr14:80346681-80346682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538180910	chr14:80346693-80346694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146953521	chr14:80346724-80346725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7142797	chr14:80346811-80346812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572101959	chr14:80346851-80346852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138042753	chr14:80346858-80346859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538070268	chr14:80346890-80346891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115194974	chr14:80346912-80346913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397744192	chr14:80346922-80346923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200238284	chr14:80346923-80346924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556445478	chr14:80346928-80346929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574960108	chr14:80346968-80346969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186771526	chr14:80355205-80355206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146046255	chr14:80355250-80355251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543437186	chr14:80355259-80355260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552646971	chr14:80355299-80355300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577455462	chr14:80355316-80355317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190064197	chr14:80355340-80355341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2205226	chr14:80355341-80355342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548868547	chr14:80355357-80355358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568681312	chr14:80355366-80355367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11621196	chr14:80355422-80355423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140029457	chr14:80355453-80355454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141450404	chr14:80355494-80355495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374847513	chr14:80355564-80355565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78898709	chr14:80355578-80355579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556543639	chr14:80355609-80355610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115032552	chr14:80355634-80355635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535370519	chr14:80355638-80355639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182248530	chr14:80355775-80355776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575469226	chr14:80355781-80355782	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80345800-80346800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:80346800-80347000	Enhancers	Brain Germinal Matrix	brain
3	chr14:80355200-80355800	Enhancers	Brain Cingulate Gyrus	brain

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