Variant report

Variant	nsv564557
Chromosome Location	chr14:41678466-41734748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 932 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1778372	chr14:41678466-41678467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571593268	chr14:41678493-41678494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34491410	chr14:41678510-41678511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557363777	chr14:41678522-41678523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575543441	chr14:41678526-41678527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150184824	chr14:41678542-41678543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543108220	chr14:41678584-41678585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554722810	chr14:41678606-41678607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573119158	chr14:41678607-41678608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540402706	chr14:41678611-41678612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565118079	chr14:41678621-41678622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532702049	chr14:41678622-41678623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374975004	chr14:41678630-41678631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201382167	chr14:41678642-41678643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201874893	chr14:41678645-41678646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113810070	chr14:41678659-41678660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200006402	chr14:41678673-41678674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565157572	chr14:41678692-41678693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376767033	chr14:41678693-41678694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544570041	chr14:41678715-41678716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563343363	chr14:41678751-41678752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369094468	chr14:41678770-41678771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530381088	chr14:41678791-41678792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202102950	chr14:41678811-41678812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567340699	chr14:41678848-41678849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372676634	chr14:41678849-41678850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528172601	chr14:41678899-41678900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546850398	chr14:41678902-41678903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112620423	chr14:41679068-41679069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374910782	chr14:41679110-41679111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201144275	chr14:41679116-41679117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9671639	chr14:41679132-41679133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201985110	chr14:41679240-41679241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200627821	chr14:41679299-41679300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201440505	chr14:41679345-41679346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200429463	chr14:41679355-41679356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538968806	chr14:41679363-41679364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201342220	chr14:41679372-41679373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141673799	chr14:41679389-41679390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182862322	chr14:41679426-41679427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556927200	chr14:41679439-41679440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189043924	chr14:41679465-41679466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147054373	chr14:41679479-41679480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555068828	chr14:41679491-41679492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573031716	chr14:41679503-41679504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540316599	chr14:41679511-41679512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558766817	chr14:41679516-41679517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138846057	chr14:41679540-41679541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544893098	chr14:41679547-41679548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142785308	chr14:41679569-41679570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41675000-41679600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:41696200-41696800	Enhancers	Liver	Liver
3	chr14:41696400-41696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:41696800-41699800	Weak transcription	Liver	Liver
5	chr14:41699800-41700400	Enhancers	Liver	Liver
6	chr14:41700400-41703800	Weak transcription	Liver	Liver
7	chr14:41703800-41705600	Enhancers	Liver	Liver
8	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:41722000-41722400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:41722000-41722400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:41722000-41723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:41722000-41723200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:41723200-41734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:41726400-41727200	Enhancers	Liver	Liver
16	chr14:41734200-41734600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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