Variant report

Variant	nsv819382
Chromosome Location	chr20:11231079-11232630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142272658	chr20:11231079-11231080	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561937928	chr20:11231133-11231134	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367873569	chr20:11231144-11231145	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2223858	chr20:11231151-11231152	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375422737	chr20:11231152-11231153	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151337049	chr20:11231156-11231157	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532757760	chr20:11231173-11231174	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76496205	chr20:11231186-11231187	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190923390	chr20:11231242-11231243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376706167	chr20:11231252-11231253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180865993	chr20:11231259-11231260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6131180	chr20:11231274-11231275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs187218224	chr20:11231291-11231292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2207105	chr20:11231353-11231354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs200705801	chr20:11231390-11231391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200192808	chr20:11231402-11231403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550563050	chr20:11231465-11231466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566376326	chr20:11231511-11231512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532158784	chr20:11231552-11231553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375453071	chr20:11231574-11231575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552947592	chr20:11231592-11231593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572943083	chr20:11231626-11231627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528612377	chr20:11231646-11231647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541881666	chr20:11231654-11231655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561850084	chr20:11231673-11231674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73086421	chr20:11231706-11231707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544805355	chr20:11231726-11231727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145869102	chr20:11231767-11231768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533653683	chr20:11231775-11231776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118091083	chr20:11231789-11231790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566464814	chr20:11231818-11231819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568985627	chr20:11231821-11231822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528904199	chr20:11231852-11231853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6040476	chr20:11231875-11231876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190847941	chr20:11231960-11231961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183435397	chr20:11231962-11231963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138425080	chr20:11231975-11231976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113678085	chr20:11231976-11231977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377159475	chr20:11232009-11232010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533828771	chr20:11232022-11232023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6108876	chr20:11232023-11232024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570470268	chr20:11232026-11232027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535479770	chr20:11232032-11232033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4643605	chr20:11232036-11232037	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575678518	chr20:11232037-11232038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199963712	chr20:11232084-11232085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75172625	chr20:11232085-11232086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115757479	chr20:11232088-11232089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4449208	chr20:11232101-11232102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141339882	chr20:11232106-11232107	Enhancers 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11216200-11238800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11227400-11235000	Weak transcription	Fetal Kidney	kidney
3	chr20:11230200-11231600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr20:11230200-11232000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:11230800-11231200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:11230800-11232200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:11232000-11233000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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