Variant report

Variant	nsv962542
Chromosome Location	chr20:11258447-11264942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:262 , 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	rs549858615	chr20:11258503-11258504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185776225	chr20:11258527-11258528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570054199	chr20:11258535-11258536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4813982	chr20:11258632-11258633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs75340411	chr20:11258647-11258648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572232615	chr20:11258650-11258651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534884044	chr20:11258666-11258667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189653392	chr20:11258735-11258736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74462843	chr20:11258740-11258741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140657196	chr20:11258750-11258751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6040504	chr20:11258771-11258772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544100577	chr20:11258784-11258785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538932428	chr20:11258812-11258813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145392995	chr20:11258831-11258832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78712106	chr20:11258843-11258844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555338573	chr20:11258878-11258879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545850056	chr20:11258899-11258900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137930116	chr20:11258904-11258905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112014692	chr20:11258966-11258967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572086720	chr20:11258968-11258969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182327152	chr20:11258984-11258985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142414094	chr20:11259002-11259003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62191793	chr20:11259005-11259006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143873558	chr20:11259062-11259063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55896006	chr20:11259080-11259081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577435539	chr20:11259119-11259120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570447497	chr20:11259139-11259140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58875492	chr20:11259150-11259151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186955719	chr20:11259174-11259175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552196409	chr20:11259175-11259176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565823836	chr20:11259180-11259181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534800258	chr20:11259235-11259236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201413469	chr20:11259250-11259251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148185908	chr20:11259268-11259269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575001039	chr20:11259273-11259274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141363206	chr20:11259283-11259284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150793868	chr20:11259302-11259303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114854613	chr20:11259305-11259306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545813775	chr20:11259317-11259318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111609745	chr20:11259375-11259376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114319059	chr20:11259376-11259377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541929293	chr20:11259417-11259418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561698579	chr20:11259443-11259444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75779945	chr20:11259485-11259486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550528654	chr20:11259506-11259507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145233010	chr20:11259509-11259510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147494028	chr20:11259514-11259515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540322520	chr20:11259525-11259526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6108895	chr20:11259576-11259577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565741404	chr20:11259583-11259584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11254400-11261800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11257800-11260600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:11258400-11258600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:11258400-11258600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr20:11258600-11270200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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