Variant report

Variant	nsv517647
Chromosome Location	chr20:41257456-41278325
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	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:

Extended variants
information (count: 855 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9974028	chr20:41257456-41257457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35869726	chr20:41257465-41257466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138036867	chr20:41257502-41257503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534066310	chr20:41257549-41257550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76667918	chr20:41257616-41257617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6065518	chr20:41257629-41257630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6093705	chr20:41257630-41257631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs542828591	chr20:41257639-41257640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143502313	chr20:41257730-41257731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150518518	chr20:41257752-41257753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139457603	chr20:41257818-41257819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375868470	chr20:41257829-41257830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201612893	chr20:41257830-41257831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149864193	chr20:41257845-41257846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527270104	chr20:41257863-41257864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547471202	chr20:41257865-41257866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560792332	chr20:41257866-41257867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529915917	chr20:41257879-41257880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549743944	chr20:41257928-41257929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559527298	chr20:41257999-41258000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554258592	chr20:41258023-41258024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539671337	chr20:41258028-41258029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557914648	chr20:41258035-41258036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181416273	chr20:41258075-41258076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533888702	chr20:41258086-41258087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186966982	chr20:41258092-41258093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144841492	chr20:41258119-41258120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139735659	chr20:41258139-41258140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144413544	chr20:41258160-41258161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576707024	chr20:41258177-41258178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545758515	chr20:41258198-41258199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6102960	chr20:41258210-41258211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572092470	chr20:41258249-41258250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191708887	chr20:41258272-41258273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182328265	chr20:41258286-41258287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529779167	chr20:41258292-41258293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543498144	chr20:41258294-41258295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563182578	chr20:41258300-41258301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532132052	chr20:41258354-41258355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552058007	chr20:41258356-41258357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565612946	chr20:41258402-41258403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146597956	chr20:41258440-41258441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6093706	chr20:41258444-41258445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567630420	chr20:41258458-41258459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536393405	chr20:41258469-41258470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556613203	chr20:41258526-41258527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187271896	chr20:41258537-41258538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189608840	chr20:41258545-41258546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182214381	chr20:41258557-41258558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529634322	chr20:41258558-41258559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41257000-41258200	Enhancers	Liver	Liver
3	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
6	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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