Variant report

Variant	nsv515585
Chromosome Location	chr14:47639275-47653221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs555396115	chr14:47640010-47640011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570196819	chr14:47640050-47640051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536023793	chr14:47640089-47640090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555652042	chr14:47640091-47640092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370136753	chr14:47640097-47640098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575337718	chr14:47640109-47640110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185996492	chr14:47640111-47640112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558427993	chr14:47640112-47640113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6572409	chr14:47640118-47640119	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545431185	chr14:47640121-47640122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191198947	chr14:47640137-47640138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542525257	chr14:47640192-47640193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182995225	chr14:47640194-47640195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541926976	chr14:47640204-47640205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565610681	chr14:47640216-47640217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561692789	chr14:47640244-47640245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188386287	chr14:47640250-47640251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139586905	chr14:47640258-47640259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369640866	chr14:47640264-47640265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530906382	chr14:47640304-47640305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564413807	chr14:47640332-47640333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533348207	chr14:47640333-47640334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs190563961	chr14:47640360-47640361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs183077683	chr14:47640375-47640376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529334415	chr14:47640390-47640391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187776615	chr14:47640413-47640414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566091983	chr14:47640437-47640438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs71418148	chr14:47640442-47640443	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564565909	chr14:47640454-47640455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558017513	chr14:47640491-47640492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571638674	chr14:47640528-47640529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs11623095	chr14:47640531-47640532	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144208189	chr14:47640550-47640551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368886098	chr14:47640565-47640566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73248078	chr14:47640622-47640623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544068687	chr14:47640625-47640626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555485289	chr14:47640648-47640649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572138051	chr14:47640668-47640669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs192520605	chr14:47640672-47640673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184278694	chr14:47640681-47640682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564350072	chr14:47640700-47640701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533234101	chr14:47640750-47640751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563880289	chr14:47640753-47640754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187561852	chr14:47640773-47640774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563631844	chr14:47640782-47640783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200102594	chr14:47640794-47640795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369956614	chr14:47640866-47640867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192808096	chr14:47640879-47640880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549204241	chr14:47640889-47640890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs151024241	chr14:47640895-47640896	ZNF genes & repeats	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
7	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel

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