Variant report

Variant	esv3383105
Chromosome Location	chr20:11467104-11468864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146802182	chr20:11467129-11467130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569420810	chr20:11467172-11467173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117856599	chr20:11467183-11467184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148930299	chr20:11467250-11467251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143635234	chr20:11467297-11467298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371352122	chr20:11467317-11467318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189307959	chr20:11467325-11467326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554187611	chr20:11467341-11467342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573568520	chr20:11467350-11467351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542288484	chr20:11467388-11467389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113148228	chr20:11467396-11467397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6134260	chr20:11467417-11467418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534389200	chr20:11467442-11467443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6134261	chr20:11467448-11467449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555840001	chr20:11467469-11467470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62191909	chr20:11467471-11467472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564296801	chr20:11467472-11467473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6134262	chr20:11467478-11467479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533194013	chr20:11467480-11467481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6134263	chr20:11467487-11467488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6104758	chr20:11467523-11467524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527510165	chr20:11467562-11467563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370040905	chr20:11467576-11467577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561053109	chr20:11467605-11467606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529283217	chr20:11467611-11467612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192657038	chr20:11467660-11467661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184183160	chr20:11467661-11467662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4142357	chr20:11467663-11467664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551923511	chr20:11467664-11467665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190329239	chr20:11467686-11467687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6040732	chr20:11467696-11467697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs181154959	chr20:11467720-11467721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567912989	chr20:11467725-11467726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539902762	chr20:11467743-11467744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201387594	chr20:11467798-11467799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549096758	chr20:11467809-11467810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35962772	chr20:11467810-11467811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536236674	chr20:11467819-11467820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559956027	chr20:11467822-11467823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555701075	chr20:11467905-11467906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117438970	chr20:11468024-11468025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544676091	chr20:11468026-11468027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558264830	chr20:11468095-11468096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532172765	chr20:11468099-11468100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369713258	chr20:11468122-11468123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572184300	chr20:11468123-11468124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377561164	chr20:11468205-11468206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540913540	chr20:11468206-11468207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151120942	chr20:11468213-11468214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80164350	chr20:11468226-11468227	Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11466400-11467600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:11467600-11469000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr20:11468000-11469000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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