Variant report

Variant	nsv523956
Chromosome Location	chr20:41280315-41290936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:

Extended variants
information (count: 428 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs970283	chr20:41280315-41280316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560345621	chr20:41280357-41280358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149301230	chr20:41280386-41280387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188538286	chr20:41280402-41280403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549969384	chr20:41280420-41280421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs970284	chr20:41280429-41280430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537482070	chr20:41280504-41280505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148435929	chr20:41280529-41280530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570653364	chr20:41280547-41280548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539543149	chr20:41280595-41280596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6030394	chr20:41280637-41280638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147573047	chr20:41280641-41280642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552553147	chr20:41280659-41280660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7271086	chr20:41280666-41280667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376305758	chr20:41280675-41280676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62203854	chr20:41280680-41280681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373139449	chr20:41280689-41280690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548053434	chr20:41280695-41280696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559350111	chr20:41280721-41280722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192511148	chr20:41280723-41280724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545387628	chr20:41280724-41280725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372821223	chr20:41280731-41280732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144151180	chr20:41280747-41280748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564059997	chr20:41280759-41280760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200542249	chr20:41280827-41280828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577818779	chr20:41280834-41280835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565775305	chr20:41280904-41280905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570641795	chr20:41280938-41280939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560406867	chr20:41280951-41280952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369851750	chr20:41280965-41280966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534851798	chr20:41280988-41280989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185026345	chr20:41281017-41281018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147961358	chr20:41281062-41281063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539465226	chr20:41281067-41281068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186738766	chr20:41281103-41281104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6030395	chr20:41281104-41281105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs191483158	chr20:41281125-41281126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140589753	chr20:41281183-41281184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184631651	chr20:41281240-41281241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539553670	chr20:41281274-41281275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150463651	chr20:41281278-41281279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145333281	chr20:41281363-41281364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35775944	chr20:41281383-41281384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189853562	chr20:41281405-41281406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555662540	chr20:41281425-41281426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566199889	chr20:41281464-41281465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575931984	chr20:41281540-41281541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149176378	chr20:41281596-41281597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557799733	chr20:41281676-41281677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192821972	chr20:41281677-41281678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41281000-41281400	Enhancers	Gastric	stomach
3	chr20:41281200-41281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:41281400-41285600	Weak transcription	Gastric	stomach
5	chr20:41284200-41285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:41285000-41285400	Enhancers	Fetal Heart	heart
7	chr20:41285600-41286200	Enhancers	Gastric	stomach

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