Variant report

Variant	esv2643731
Chromosome Location	chr20:22061213-22064768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:21773919..21776758-chr20:22060246..22062031,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181947242	chr20:22061227-22061228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6137532	chr20:22061241-22061242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7351393	chr20:22061251-22061252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201044422	chr20:22061311-22061312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199540084	chr20:22061313-22061314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34178423	chr20:22061314-22061315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74464404	chr20:22061315-22061316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559281350	chr20:22061389-22061390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79903082	chr20:22061442-22061443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553138361	chr20:22061480-22061481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150440299	chr20:22061482-22061483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185900469	chr20:22061486-22061487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6113495	chr20:22061487-22061488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190715254	chr20:22061495-22061496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181138541	chr20:22061511-22061512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530933639	chr20:22061529-22061530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560123292	chr20:22061626-22061627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6113496	chr20:22061632-22061633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112434763	chr20:22061643-22061644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186436767	chr20:22061644-22061645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373385347	chr20:22061683-22061684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151059141	chr20:22061684-22061685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566936783	chr20:22061737-22061738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115000244	chr20:22061763-22061764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554437187	chr20:22061816-22061817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145106978	chr20:22061820-22061821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191307129	chr20:22061821-22061822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556675816	chr20:22061829-22061830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368458152	chr20:22061839-22061840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138983923	chr20:22061889-22061890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559631051	chr20:22061997-22061998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572814229	chr20:22062002-22062003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140694973	chr20:22062016-22062017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111335835	chr20:22062045-22062046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576078372	chr20:22062049-22062050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8183131	chr20:22062068-22062069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563528384	chr20:22062088-22062089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530871910	chr20:22062119-22062120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113739040	chr20:22062129-22062130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370419752	chr20:22062130-22062131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112110795	chr20:22062136-22062137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138364889	chr20:22062138-22062139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149248558	chr20:22062173-22062174	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22061200-22062200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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