Variant report

Variant	nsv977626
Chromosome Location	chr14:44794671-44799145
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	chr14:44795723..44798432-chr14:44798850..44801579,2	MCF-7	breast:
2	chr14:44795723..44798432-chr14:44798850..44801579,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192881474	chr14:44795012-44795013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369723285	chr14:44795072-44795073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4906524	chr14:44795119-44795120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138407645	chr14:44795132-44795133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373598240	chr14:44795141-44795142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148038543	chr14:44795143-44795144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573209895	chr14:44795150-44795151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115408518	chr14:44795193-44795194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557357749	chr14:44795262-44795263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569156938	chr14:44795264-44795265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189341471	chr14:44795280-44795281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555062778	chr14:44795286-44795287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561785092	chr14:44795306-44795307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530839765	chr14:44795308-44795309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182177928	chr14:44795324-44795325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17114832	chr14:44795327-44795328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558864657	chr14:44795329-44795330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577500504	chr14:44795341-44795342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561893256	chr14:44795344-44795345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544570029	chr14:44795366-44795367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562549759	chr14:44795405-44795406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575354054	chr14:44795483-44795484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574047266	chr14:44795490-44795491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541533577	chr14:44795526-44795527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559780665	chr14:44795543-44795544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184533495	chr14:44795548-44795549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552375125	chr14:44795554-44795555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189315424	chr14:44795648-44795649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143494940	chr14:44795668-44795669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549765244	chr14:44795670-44795671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569245362	chr14:44795698-44795699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531118294	chr14:44795715-44795716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536616127	chr14:44795762-44795763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140437164	chr14:44795799-44795800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181678514	chr14:44795834-44795835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564465895	chr14:44795838-44795839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534270605	chr14:44795866-44795867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185816696	chr14:44795899-44795900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577362915	chr14:44795931-44795932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191307217	chr14:44795936-44795937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371417344	chr14:44795962-44795963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556537379	chr14:44796023-44796024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181185025	chr14:44796077-44796078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76926808	chr14:44796097-44796098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144192393	chr14:44796108-44796109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546614978	chr14:44796117-44796118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372655947	chr14:44796119-44796120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571840596	chr14:44796133-44796134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539917636	chr14:44796148-44796149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545569375	chr14:44796172-44796173	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44795000-44795200	Enhancers	NHDF-Ad	bronchial
2	chr14:44795000-44798600	Enhancers	Fetal Heart	heart
3	chr14:44795800-44796000	Enhancers	NHDF-Ad	bronchial
4	chr14:44798400-44798800	Enhancers	Brain Germinal Matrix	brain
5	chr14:44798800-44799200	Weak transcription	Brain Germinal Matrix	brain

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