Variant report

Variant	nsv564788
Chromosome Location	chr14:47710809-47717798
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	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574704596	chr14:47710838-47710839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540173522	chr14:47710853-47710854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556294158	chr14:47710869-47710870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200599614	chr14:47710892-47710893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532663837	chr14:47710906-47710907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372699551	chr14:47710909-47710910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139540131	chr14:47710988-47710989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377493328	chr14:47711054-47711055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181264845	chr14:47711059-47711060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545852875	chr14:47711103-47711104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184986831	chr14:47711114-47711115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17652760	chr14:47711141-47711142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546730676	chr14:47711173-47711174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548405196	chr14:47711177-47711178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539587945	chr14:47711183-47711184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76406902	chr14:47711201-47711202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189915119	chr14:47711257-47711258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547793220	chr14:47711260-47711261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566414365	chr14:47711318-47711319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538645119	chr14:47711329-47711330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527473324	chr14:47711364-47711365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140368269	chr14:47711371-47711372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182034891	chr14:47711376-47711377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10137872	chr14:47711404-47711405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554837716	chr14:47711412-47711413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186138315	chr14:47711491-47711492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540475230	chr14:47711535-47711536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553793484	chr14:47711544-47711545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577160736	chr14:47711570-47711571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545842443	chr14:47711577-47711578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562623060	chr14:47711611-47711612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531728716	chr14:47711652-47711653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376256377	chr14:47711659-47711660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541938819	chr14:47711671-47711672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562279097	chr14:47711682-47711683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527880855	chr14:47711687-47711688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548027507	chr14:47711688-47711689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571096940	chr14:47711705-47711706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532141108	chr14:47711728-47711729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8019888	chr14:47711736-47711737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568957262	chr14:47711752-47711753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537912784	chr14:47711758-47711759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554371482	chr14:47711791-47711792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568207846	chr14:47711802-47711803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533788878	chr14:47711805-47711806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554033378	chr14:47711815-47711816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576757332	chr14:47711816-47711817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545780451	chr14:47711818-47711819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556107260	chr14:47711828-47711829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8018768	chr14:47711840-47711841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21785460	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
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47710600-47713600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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