Variant report

Variant	esv3366839
Chromosome Location	chr20:11377002-11380050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548303853	chr20:11377047-11377048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115210629	chr20:11377067-11377068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537236996	chr20:11377072-11377073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6040615	chr20:11377083-11377084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189850368	chr20:11377084-11377085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539315695	chr20:11377101-11377102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552860984	chr20:11377133-11377134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118057059	chr20:11377168-11377169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371490734	chr20:11377179-11377180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554625560	chr20:11377209-11377210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574861771	chr20:11377248-11377249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6040616	chr20:11377276-11377277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568128204	chr20:11377302-11377303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145998585	chr20:11377303-11377304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557747774	chr20:11377312-11377313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577376955	chr20:11377339-11377340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138806517	chr20:11377354-11377355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560136108	chr20:11377374-11377375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528082915	chr20:11377395-11377396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548241820	chr20:11377444-11377445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6134237	chr20:11377447-11377448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537371807	chr20:11377499-11377500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6040617	chr20:11377517-11377518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534531259	chr20:11377544-11377545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115768930	chr20:11377549-11377550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542825055	chr20:11377588-11377589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539255123	chr20:11377607-11377608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73606440	chr20:11377624-11377625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73606441	chr20:11377633-11377634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73606442	chr20:11377636-11377637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546490251	chr20:11377725-11377726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7275064	chr20:11377744-11377745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8126447	chr20:11377748-11377749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149598376	chr20:11377753-11377754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183273897	chr20:11377755-11377756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528411808	chr20:11377767-11377768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73245675	chr20:11377790-11377791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs8120449	chr20:11377850-11377851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186475492	chr20:11377865-11377866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546460371	chr20:11377907-11377908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560074141	chr20:11377936-11377937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377614895	chr20:11377944-11377945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533478561	chr20:11377988-11377989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6040618	chr20:11377998-11377999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542562608	chr20:11378001-11378002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561493492	chr20:11378015-11378016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191157727	chr20:11378043-11378044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543927473	chr20:11378064-11378065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564256865	chr20:11378075-11378076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533133433	chr20:11378091-11378092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11376200-11380200	Weak transcription	NHEK	skin
2	chr20:11376200-11383800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr20:11376600-11383600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:11376800-11379000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:11376800-11379200	Weak transcription	Osteobl	bone
6	chr20:11376800-11382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:11377000-11379600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:11379000-11379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:11379200-11379600	Enhancers	Osteobl	bone
10	chr20:11379400-11383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:11379600-11380000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:11379600-11383800	Weak transcription	Osteobl	bone
13	chr20:11380000-11394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links