Variant report

Variant	nsv84619
Chromosome Location	chr14:85194069-85197739
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	chr13:112308570..112309331-chr14:85196106..85196606,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576822951	chr14:85194075-85194076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147215337	chr14:85194076-85194077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541067279	chr14:85194095-85194096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559326053	chr14:85194138-85194139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76353830	chr14:85194147-85194148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2623138	chr14:85194162-85194163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112704750	chr14:85195243-85195244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543724909	chr14:85195254-85195255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376600318	chr14:85195260-85195261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79840500	chr14:85195294-85195295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79552221	chr14:85195323-85195324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528922920	chr14:85195343-85195344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80093887	chr14:85195347-85195348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61979705	chr14:85195376-85195377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61979706	chr14:85195387-85195388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs137985307	chr14:85195420-85195421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566345508	chr14:85195431-85195432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75153452	chr14:85195444-85195445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190770214	chr14:85195456-85195457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12435636	chr14:85195464-85195465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535886139	chr14:85195508-85195509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180984865	chr14:85195511-85195512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186396866	chr14:85195515-85195516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546203938	chr14:85195530-85195531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191104267	chr14:85195587-85195588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182940973	chr14:85195637-85195638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188381752	chr14:85195658-85195659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77810558	chr14:85195678-85195679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149450571	chr14:85195741-85195742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550509684	chr14:85195752-85195753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191253192	chr14:85195841-85195842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182942029	chr14:85195842-85195843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550368397	chr14:85195874-85195875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551420839	chr14:85195886-85195887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147144593	chr14:85195903-85195904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533781592	chr14:85195979-85195980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546678302	chr14:85195980-85195981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188451882	chr14:85196016-85196017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373873848	chr14:85196105-85196106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529998804	chr14:85196142-85196143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1481417	chr14:85196163-85196164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs557299046	chr14:85196179-85196180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141007106	chr14:85196182-85196183	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85192800-85194200	Enhancers	Fetal Brain Female	brain
2	chr14:85193200-85194200	Enhancers	Fetal Brain Male	brain
3	chr14:85195200-85196200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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