Variant report

Variant	esv2762087
Chromosome Location	chr20:53525515-53532627
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:53524084..53526221-chr20:53527180..53529602,2	MCF-7	breast:
2	chr20:45989491..45990099-chr20:53531216..53531844,2	MCF-7	breast:
3	chr20:53351517..53353056-chr20:53525987..53528472,2	MCF-7	breast:
4	chr20:53524084..53526221-chr20:53527180..53529602,2	MCF-7	breast:
5	chr20:53528274..53530269-chr20:53537071..53540114,3	MCF-7	breast:
6	chr20:53528909..53530872-chr20:53533679..53535897,2	MCF-7	breast:
7	chr20:53458903..53460576-chr20:53530268..53532313,2	MCF-7	breast:
8	chr20:53529687..53531510-chr3:64672438..64675127,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163638	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551125387	chr20:53525526-53525527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571043913	chr20:53525531-53525532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs6014212	chr20:53525548-53525549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536727550	chr20:53525549-53525550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs8118191	chr20:53525559-53525560	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568739265	chr20:53525568-53525569	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567138669	chr20:53525569-53525570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536202403	chr20:53525573-53525574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6098309	chr20:53529713-53529714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529427908	chr20:53529733-53529734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542763071	chr20:53529739-53529740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537321631	chr20:53529766-53529767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76298036	chr20:53529778-53529779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528515016	chr20:53529793-53529794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373422552	chr20:53529796-53529797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551765408	chr20:53529916-53529917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533564215	chr20:53529933-53529934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188467029	chr20:53529958-53529959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6127325	chr20:53529962-53529963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6098310	chr20:53529971-53529972	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533241210	chr20:53530014-53530015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550046781	chr20:53530035-53530036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192941133	chr20:53530059-53530060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373376913	chr20:53530113-53530114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368038904	chr20:53530260-53530261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377378169	chr20:53530263-53530264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535598749	chr20:53530268-53530269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570915246	chr20:53530283-53530284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199884113	chr20:53530325-53530326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565740472	chr20:53530338-53530339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6023702	chr20:53530358-53530359	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557318075	chr20:53530404-53530405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185537802	chr20:53530457-53530458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190508837	chr20:53530515-53530516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11906018	chr20:53530596-53530597	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553338139	chr20:53530603-53530604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11906021	chr20:53530609-53530610	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574153065	chr20:53530633-53530634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370877452	chr20:53530644-53530645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559607745	chr20:53530679-53530680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573359627	chr20:53530711-53530712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577653319	chr20:53530715-53530716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141593799	chr20:53530737-53530738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200785809	chr20:53530764-53530765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180894013	chr20:53530774-53530775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533307491	chr20:53530776-53530777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183769159	chr20:53530779-53530780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534740646	chr20:53530808-53530809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563551421	chr20:53530840-53530841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs150611125	chr20:53530844-53530845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53525400-53525600	Active TSS	Brain Hippocampus Middle	brain

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