Variant report

Variant	nsv482066
Chromosome Location	chr20:23666277-23669662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 280 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543143792	chr20:23666279-23666280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563018742	chr20:23666280-23666281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191804321	chr20:23666283-23666284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548661997	chr20:23666300-23666301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183138223	chr20:23666302-23666303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528831275	chr20:23666310-23666311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571902114	chr20:23666311-23666312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537618947	chr20:23666319-23666320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375242799	chr20:23666331-23666332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565267381	chr20:23666369-23666370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567725979	chr20:23666414-23666415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372185781	chr20:23666420-23666421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375509845	chr20:23666427-23666428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573185284	chr20:23666431-23666432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532528739	chr20:23666438-23666439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368933751	chr20:23666469-23666470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6138037	chr20:23666484-23666485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs375884214	chr20:23666486-23666487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374982230	chr20:23666500-23666501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185379401	chr20:23666528-23666529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138382404	chr20:23666536-23666537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573608403	chr20:23666552-23666553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542705394	chr20:23666576-23666577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377523707	chr20:23666581-23666582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201023151	chr20:23666587-23666588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143990199	chr20:23666588-23666589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146152326	chr20:23666596-23666597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182089948	chr20:23666597-23666598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565550102	chr20:23666604-23666605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112139500	chr20:23666606-23666607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375136030	chr20:23666624-23666625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187785366	chr20:23666629-23666630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567749965	chr20:23666636-23666637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368388128	chr20:23666637-23666638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193005225	chr20:23666675-23666676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547060142	chr20:23666676-23666677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2282378	chr20:23666690-23666691	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538622111	chr20:23666698-23666699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536098359	chr20:23666699-23666700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577477914	chr20:23666713-23666714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139897903	chr20:23666720-23666721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2897200	chr20:23666725-23666726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556784643	chr20:23666733-23666734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2405661	chr20:23666741-23666742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374666783	chr20:23666750-23666751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2405662	chr20:23666755-23666756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2405663	chr20:23666756-23666757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2405664	chr20:23666771-23666772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184027367	chr20:23666776-23666777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2405665	chr20:23666782-23666783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23660600-23668600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23663800-23672400	Weak transcription	NHLF	lung
3	chr20:23665200-23669000	Weak transcription	HUVEC	blood vessel
4	chr20:23665800-23666400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:23666000-23666400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:23666000-23667000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23667000-23672200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:23667200-23667400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:23667400-23668800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:23668600-23670000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23668800-23669000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:23668800-23669000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:23668800-23669000	Enhancers	Spleen	Spleen
14	chr20:23669000-23669200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:23669000-23669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:23669000-23671000	Enhancers	HUVEC	blood vessel
17	chr20:23669200-23670200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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