Variant report

Variant	nsv1044027
Chromosome Location	chr14:43578556-43602205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375112710	chr14:43587823-43587824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs180915162	chr14:43587828-43587829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552612928	chr14:43587867-43587868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11846000	chr14:43587877-43587878	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11846002	chr14:43587884-43587885	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550444539	chr14:43587903-43587904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533598934	chr14:43587975-43587976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2798397	chr14:43587983-43587984	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138088503	chr14:43588018-43588019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543553934	chr14:43588067-43588068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557397324	chr14:43588072-43588073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142292781	chr14:43588077-43588078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs207474743	chr14:43588096-43588097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186287790	chr14:43588103-43588104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553821192	chr14:43588104-43588105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558555858	chr14:43588110-43588111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190564672	chr14:43588133-43588134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146124997	chr14:43588149-43588150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546403117	chr14:43588158-43588159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555979250	chr14:43588169-43588170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574152013	chr14:43588180-43588181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181783859	chr14:43588190-43588191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs2807794	chr14:43588197-43588198	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571934143	chr14:43588204-43588205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186915929	chr14:43588265-43588266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2807795	chr14:43588268-43588269	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138692410	chr14:43588293-43588294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543993831	chr14:43588296-43588297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562270787	chr14:43588310-43588311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113747716	chr14:43588327-43588328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10137232	chr14:43588338-43588339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529377195	chr14:43588341-43588342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs141144282	chr14:43588343-43588344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566199020	chr14:43588395-43588396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7156764	chr14:43588434-43588435	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs137983279	chr14:43588444-43588445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377411195	chr14:43588448-43588449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542501656	chr14:43588464-43588465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570644446	chr14:43588490-43588491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537755519	chr14:43588504-43588505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560725843	chr14:43588525-43588526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71411674	chr14:43588542-43588543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555913883	chr14:43588566-43588567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567931439	chr14:43588605-43588606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535302689	chr14:43588613-43588614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553567613	chr14:43588618-43588619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572153763	chr14:43588644-43588645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371266655	chr14:43588684-43588685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369075825	chr14:43588716-43588717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557745649	chr14:43588734-43588735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43587800-43589200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:43601400-43601800	Enhancers	Fetal Intestine Small	intestine

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