Variant report

Variant	esv3356735
Chromosome Location	chr20:23762052-23766450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23649188..23649689-chr20:23762769..23763504,2	MCF-7	breast:
2	chr20:23704490..23705249-chr20:23762654..23763235,2	MCF-7	breast:
3	chr20:23763057..23763763-chr20:23870036..23871243,3	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6076128	chr20:23762207-23762208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569351592	chr20:23762231-23762232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564814811	chr20:23762238-23762239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149056583	chr20:23762239-23762240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574835973	chr20:23762271-23762272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547069388	chr20:23762276-23762277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142183990	chr20:23762305-23762306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182603552	chr20:23762318-23762319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6138077	chr20:23762380-23762381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78390262	chr20:23762384-23762385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186889665	chr20:23762385-23762386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565173804	chr20:23762413-23762414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6049118	chr20:23762460-23762461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190651848	chr20:23762463-23762464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115363557	chr20:23762475-23762476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529714161	chr20:23762487-23762488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11473072	chr20:23762525-23762526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34462156	chr20:23762526-23762527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563960610	chr20:23762530-23762531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34727453	chr20:23762535-23762536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58547690	chr20:23762536-23762537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6138078	chr20:23762537-23762538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373537094	chr20:23762546-23762547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116230670	chr20:23762572-23762573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80146252	chr20:23762575-23762576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566165725	chr20:23762587-23762588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531973387	chr20:23762594-23762595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6049119	chr20:23762616-23762617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569487342	chr20:23762632-23762633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538064535	chr20:23762721-23762722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184096608	chr20:23762771-23762772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151189518	chr20:23762779-23762780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570282355	chr20:23762789-23762790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140402392	chr20:23762807-23762808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150365842	chr20:23762810-23762811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188596048	chr20:23762827-23762828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193250775	chr20:23762829-23762830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538543273	chr20:23762855-23762856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138218442	chr20:23762866-23762867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184478795	chr20:23762868-23762869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187294205	chr20:23762870-23762871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561164543	chr20:23762901-23762902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191771262	chr20:23762922-23762923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6036531	chr20:23762946-23762947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183853413	chr20:23762957-23762958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559814525	chr20:23762982-23762983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531983441	chr20:23763013-23763014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552934108	chr20:23763037-23763038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6036532	chr20:23763089-23763090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs111847916	chr20:23763159-23763160	Enhancers	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
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23762200-23763600	Enhancers	Dnd41	blood

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