Variant report

Variant	nsv523138
Chromosome Location	chr20:24683554-24686375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370166545	chr20:24683554-24683555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60405853	chr20:24683555-24683556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548773455	chr20:24683590-24683591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142979940	chr20:24683592-24683593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534277924	chr20:24683719-24683720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557332317	chr20:24683743-24683744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192207500	chr20:24683744-24683745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570955668	chr20:24683750-24683751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536937330	chr20:24683769-24683770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73905439	chr20:24683797-24683798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573084280	chr20:24683801-24683802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573734212	chr20:24683805-24683806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183017326	chr20:24683820-24683821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555545939	chr20:24683848-24683849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185849213	chr20:24683857-24683858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35037504	chr20:24683870-24683871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541391856	chr20:24683874-24683875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369269107	chr20:24683888-24683889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34025307	chr20:24683892-24683893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377529114	chr20:24683908-24683909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190105589	chr20:24683925-24683926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529429729	chr20:24683942-24683943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571833147	chr20:24683961-24683962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151103733	chr20:24683985-24683986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528169517	chr20:24683993-24683994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575438670	chr20:24683994-24683995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551100659	chr20:24684064-24684065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570894351	chr20:24684089-24684090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537076537	chr20:24684090-24684091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550573780	chr20:24684109-24684110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567567119	chr20:24684135-24684136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536021338	chr20:24684149-24684150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143917037	chr20:24684158-24684159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553208110	chr20:24684159-24684160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115007658	chr20:24684172-24684173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535114587	chr20:24684217-24684218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558321447	chr20:24684261-24684262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577939744	chr20:24684297-24684298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541468283	chr20:24684299-24684300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543812782	chr20:24684314-24684315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563786189	chr20:24684330-24684331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141172606	chr20:24684331-24684332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542996169	chr20:24684347-24684348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559510656	chr20:24684364-24684365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11430047	chr20:24684371-24684372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397827236	chr20:24684381-24684382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528693038	chr20:24684447-24684448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182386580	chr20:24684448-24684449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146927728	chr20:24684483-24684484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530391029	chr20:24684491-24684492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24666600-24684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24675800-24689200	Weak transcription	Right Atrium	heart
3	chr20:24681200-24685000	Weak transcription	Thymus	Thymus
4	chr20:24681600-24685400	Weak transcription	Fetal Thymus	thymus
5	chr20:24684000-24684200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:24685000-24685800	Enhancers	Thymus	Thymus
7	chr20:24685400-24685800	Enhancers	Fetal Thymus	thymus
8	chr20:24685800-24687000	Enhancers	HSMM	muscle
9	chr20:24685800-24688800	Weak transcription	Fetal Thymus	thymus
10	chr20:24685800-24695000	Weak transcription	Thymus	Thymus
11	chr20:24686000-24686200	Bivalent Enhancer	Fetal Lung	lung

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