Variant report

Variant	esv3415398
Chromosome Location	chr20:24903002-24905425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 58 )

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	rs6138409	chr20:24903010-24903011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565515513	chr20:24903018-24903019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534656352	chr20:24903022-24903023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557797860	chr20:24903038-24903039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577964562	chr20:24903042-24903043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537365194	chr20:24903046-24903047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557159116	chr20:24903049-24903050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191154457	chr20:24903077-24903078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541936341	chr20:24903081-24903082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562255022	chr20:24903109-24903110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182318349	chr20:24903172-24903173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540985229	chr20:24903178-24903179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9753592	chr20:24903185-24903186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186903517	chr20:24903200-24903201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185000592	chr20:24903221-24903222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533416302	chr20:24903244-24903245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201269931	chr20:24903250-24903251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550074216	chr20:24903261-24903262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563712502	chr20:24903263-24903264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147624845	chr20:24903272-24903273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142186433	chr20:24903286-24903287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565730103	chr20:24903299-24903300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111634018	chr20:24903318-24903319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534712781	chr20:24903345-24903346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200801400	chr20:24903349-24903350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551369315	chr20:24903350-24903351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556456106	chr20:24903436-24903437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4462848	chr20:24903450-24903451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538874928	chr20:24903494-24903495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553966373	chr20:24903502-24903503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537328038	chr20:24903513-24903514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144382329	chr20:24903533-24903534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200320521	chr20:24903550-24903551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113044811	chr20:24903581-24903582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573750826	chr20:24903584-24903585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374691588	chr20:24903585-24903586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183335288	chr20:24903609-24903610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4539860	chr20:24903619-24903620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543149310	chr20:24903670-24903671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28815609	chr20:24903688-24903689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147922275	chr20:24903699-24903700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200207398	chr20:24903700-24903701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201052320	chr20:24903701-24903702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572455200	chr20:24903716-24903717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372839716	chr20:24903720-24903721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541146989	chr20:24903742-24903743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552658413	chr20:24903763-24903764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112815873	chr20:24903790-24903791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376234386	chr20:24903843-24903844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143678423	chr20:24903853-24903854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24900400-24906400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:24901400-24915200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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