Variant report

Variant	nsv1040879
Chromosome Location	chr14:38911058-38934074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12890495	chr14:38911058-38911059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185246027	chr14:38911084-38911085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79517487	chr14:38911119-38911120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189704157	chr14:38911195-38911196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531833919	chr14:38911208-38911209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145957158	chr14:38911212-38911213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117343752	chr14:38911219-38911220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180942498	chr14:38911236-38911237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547462015	chr14:38911237-38911238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7153963	chr14:38911264-38911265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs532180617	chr14:38911274-38911275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536581655	chr14:38911285-38911286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4901867	chr14:38911307-38911308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs569802310	chr14:38911309-38911310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538468906	chr14:38911348-38911349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558186451	chr14:38911392-38911393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114697068	chr14:38911394-38911395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533925994	chr14:38911404-38911405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553787831	chr14:38911444-38911445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542552335	chr14:38911497-38911498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186307311	chr14:38911532-38911533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113378587	chr14:38911536-38911537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562860070	chr14:38911538-38911539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183617437	chr14:38911615-38911616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368092661	chr14:38911623-38911624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188559849	chr14:38911628-38911629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139821578	chr14:38911669-38911670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34852967	chr14:38911676-38911677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527434790	chr14:38911747-38911748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565597186	chr14:38911748-38911749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143135989	chr14:38911761-38911762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192228957	chr14:38911794-38911795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142698223	chr14:38914803-38914804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531268704	chr14:38914804-38914805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs550871200	chr14:38914834-38914835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577059795	chr14:38914841-38914842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564417106	chr14:38914852-38914853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550382858	chr14:38914863-38914864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374601948	chr14:38914880-38914881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112071080	chr14:38914886-38914887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539358520	chr14:38914905-38914906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566232729	chr14:38914920-38914921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558028794	chr14:38914937-38914938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535077932	chr14:38914959-38914960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150578911	chr14:38914967-38914968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569036261	chr14:38914988-38914989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370937111	chr14:38915005-38915006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs80340152	chr14:38915034-38915035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182850974	chr14:38915058-38915059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577727620	chr14:38915250-38915251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38910800-38911600	Enhancers	Fetal Heart	heart
2	chr14:38911400-38911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:38914800-38916200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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