Variant report

Variant	nsv962550
Chromosome Location	chr20:52999847-53001516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52970500..52972765-chr20:52999038..53000852,2	MCF-7	breast:
2	chr20:53000318..53001983-chr20:53203861..53206076,2	MCF-7	breast:
3	chr20:52994488..52996309-chr20:53000177..53002729,2	MCF-7	breast:
4	chr17:57923666..57925669-chr20:53000512..53003012,2	MCF-7	breast:
5	chr20:52882145..52883756-chr20:53001250..53003874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201524	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140152418	chr20:52999882-52999883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569120688	chr20:52999959-52999960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376338254	chr20:52999969-52999970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562908566	chr20:52999970-52999971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190303951	chr20:53000013-53000014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550602642	chr20:53000036-53000037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539699922	chr20:53000068-53000069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561097173	chr20:53000112-53000113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529863945	chr20:53000143-53000144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6023180	chr20:53000158-53000159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566214662	chr20:53000172-53000173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115585891	chr20:53000197-53000198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551753833	chr20:53000254-53000255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568518449	chr20:53000292-53000293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34636655	chr20:53000299-53000300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143809185	chr20:53000327-53000328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182278294	chr20:53000364-53000365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368121789	chr20:53000379-53000380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554981801	chr20:53000454-53000455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574951927	chr20:53000467-53000468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558056666	chr20:53000468-53000469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200172794	chr20:53000500-53000501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11480598	chr20:53000502-53000503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397735330	chr20:53000503-53000504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6068869	chr20:53000517-53000518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534108268	chr20:53000520-53000521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73145257	chr20:53000558-53000559	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6068870	chr20:53000565-53000566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146864231	chr20:53000570-53000571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552698536	chr20:53000571-53000572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140626653	chr20:53000579-53000580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572770361	chr20:53000586-53000587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187271855	chr20:53000605-53000606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150393936	chr20:53000606-53000607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145209483	chr20:53000668-53000669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561002912	chr20:53000680-53000681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112873563	chr20:53000689-53000690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190874745	chr20:53000711-53000712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559963908	chr20:53000712-53000713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs386815228	chr20:53000715-53000716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185469090	chr20:53000716-53000717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568799441	chr20:53000731-53000732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537462960	chr20:53000742-53000743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532137727	chr20:53000743-53000744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568646113	chr20:53000775-53000776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375872324	chr20:53000790-53000791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368520533	chr20:53000808-53000809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142132444	chr20:53000830-53000831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534551597	chr20:53000883-53000884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554405785	chr20:53000896-53000897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	21645411	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
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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52999400-53001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:53001200-53001600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:53001200-53002600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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