Variant report

Variant	nsv516256
Chromosome Location	chr14:36802732-36809926
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	chr14:36797776..36799754-chr14:36805074..36807804,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1535722	chr14:36802732-36802733	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540151425	chr14:36802770-36802771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2840236	chr14:36802788-36802789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547615607	chr14:36806022-36806023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569655580	chr14:36806037-36806038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563828860	chr14:36806049-36806050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76720528	chr14:36806059-36806060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115362317	chr14:36806069-36806070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559515214	chr14:36806142-36806143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9944138	chr14:36806228-36806229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376562774	chr14:36806259-36806260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191250237	chr14:36806292-36806293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7147572	chr14:36808436-36808437	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370048569	chr14:36808472-36808473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570531257	chr14:36808490-36808491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577295032	chr14:36808497-36808498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11845435	chr14:36808586-36808587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182227642	chr14:36808625-36808626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7147634	chr14:36808640-36808641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76447317	chr14:36808650-36808651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78809639	chr14:36808654-36808655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34452503	chr14:36808669-36808670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529887830	chr14:36808702-36808703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544201047	chr14:36808714-36808715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34076061	chr14:36808820-36808821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141413018	chr14:36808835-36808836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185242848	chr14:36808840-36808841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35706105	chr14:36808856-36808857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35792550	chr14:36808872-36808873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs5807864	chr14:36808894-36808895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397853109	chr14:36808900-36808901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57539683	chr14:36808946-36808947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552198786	chr14:36808958-36808959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367815524	chr14:36809023-36809024	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542011489	chr14:36809176-36809177	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561984462	chr14:36809200-36809201	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36802400-36802800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:36806000-36806400	Enhancers	Brain Germinal Matrix	brain
3	chr14:36808400-36808800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:36808600-36809000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:36809000-36809200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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