Variant report

Variant	esv3409692
Chromosome Location	chr14:82774793-82776824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537465325	chr14:82775217-82775218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117184945	chr14:82775244-82775245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571291855	chr14:82775247-82775248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs8012791	chr14:82775249-82775250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554454991	chr14:82775282-82775283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572768673	chr14:82775288-82775289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543294373	chr14:82775351-82775352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554983690	chr14:82775382-82775383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143483303	chr14:82775384-82775385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543484043	chr14:82775412-82775413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565358486	chr14:82775430-82775431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148144264	chr14:82775477-82775478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544794197	chr14:82775513-82775514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559873944	chr14:82775518-82775519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2219410	chr14:82775537-82775538	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187063630	chr14:82775543-82775544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567465070	chr14:82775557-82775558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191035205	chr14:82775566-82775567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538309031	chr14:82775584-82775585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182117091	chr14:82775593-82775594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs8013588	chr14:82775615-82775616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571318944	chr14:82775618-82775619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112430606	chr14:82775648-82775649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533914915	chr14:82775667-82775668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs116920082	chr14:82775681-82775682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs117988944	chr14:82775682-82775683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566246377	chr14:82775732-82775733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536851826	chr14:82775762-82775763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555225814	chr14:82775796-82775797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576689970	chr14:82775814-82775815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186753357	chr14:82775856-82775857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs115084735	chr14:82775867-82775868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190428823	chr14:82775868-82775869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544546941	chr14:82775896-82775897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182595312	chr14:82775923-82775924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559443491	chr14:82775932-82775933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs527449617	chr14:82775978-82775979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs10137839	chr14:82775988-82775989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs114021671	chr14:82776004-82776005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370461841	chr14:82776018-82776019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531557419	chr14:82776101-82776102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549742572	chr14:82776123-82776124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs117502597	chr14:82776153-82776154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532165401	chr14:82776182-82776183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139347447	chr14:82776184-82776185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565811872	chr14:82776185-82776186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375361016	chr14:82776202-82776203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188721870	chr14:82776216-82776217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548545703	chr14:82776234-82776235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs574645960	chr14:82776237-82776238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82775200-82778200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:82775800-82776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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