Variant report

Variant	esv3454356
Chromosome Location	chr20:52866111-52867456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52765702..52767695-chr20:52867432..52869251,2	MCF-7	breast:
2	chr20:52867284..52867978-chr20:52883331..52884092,2	MCF-7	breast:
3	chr20:52824081..52826054-chr20:52865932..52869454,4	MCF-7	breast:
4	chr20:52840265..52842144-chr20:52866787..52869345,2	MCF-7	breast:
5	chr20:52853983..52856679-chr20:52866149..52869118,2	MCF-7	breast:
6	chr20:52541071..52543392-chr20:52866334..52868827,2	MCF-7	breast:
7	chr20:52823769..52826753-chr20:52862832..52866442,3	MCF-7	breast:
8	chr20:46414313..46416675-chr20:52867121..52869732,2	MCF-7	breast:
9	chr20:52864152..52866358-chr20:52903811..52906264,2	MCF-7	breast:
10	chr20:52861957..52864454-chr20:52866467..52868333,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	chromatin interactions
ENSG00000196562	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146047852	chr20:52866119-52866120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28624591	chr20:52866152-52866153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73137431	chr20:52866161-52866162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557075226	chr20:52866171-52866172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144727567	chr20:52866247-52866248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534988509	chr20:52866248-52866249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11478481	chr20:52866249-52866250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs384374	chr20:52866275-52866276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6023070	chr20:52866280-52866281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373274192	chr20:52866282-52866283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573806213	chr20:52866284-52866285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6023071	chr20:52866287-52866288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6023072	chr20:52866288-52866289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6023073	chr20:52866296-52866297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542614567	chr20:52866310-52866311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201399433	chr20:52866330-52866331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372432621	chr20:52866475-52866476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28369372	chr20:52866515-52866516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191541861	chr20:52866613-52866614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200236427	chr20:52866722-52866723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546184687	chr20:52866920-52866921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553017969	chr20:52866923-52866924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2447549	chr20:52866936-52866937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573416531	chr20:52866953-52866954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28635875	chr20:52867038-52867039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28627737	chr20:52867039-52867040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545687455	chr20:52867067-52867068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28517739	chr20:52867079-52867080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs8116019	chr20:52867096-52867097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565486750	chr20:52867147-52867148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531125984	chr20:52867157-52867158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539801846	chr20:52867183-52867184	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567623561	chr20:52867184-52867185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs62216587	chr20:52867205-52867206	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561025978	chr20:52867211-52867212	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530157719	chr20:52867238-52867239	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549004156	chr20:52867241-52867242	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28717994	chr20:52867256-52867257	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28419359	chr20:52867265-52867266	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs28629827	chr20:52867272-52867273	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560547456	chr20:52867283-52867284	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs292115	chr20:52867364-52867365	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73137432	chr20:52867390-52867391	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73137433	chr20:52867404-52867405	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28414937	chr20:52867405-52867406	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52865400-52871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52867200-52867600	Active TSS	A549	lung
3	chr20:52867400-52867800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:52867400-52868200	Enhancers	Hela-S3	cervix

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