Variant report

Variant	esv10015
Chromosome Location	chr20:53292985-53294741
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53294274..53296254-chr20:53296968..53298496,2	MCF-7	breast:
2	chr16:70414219..70416297-chr20:53291360..53294038,2	MCF-7	breast:
3	chr1:114889055..114889767-chr20:53293774..53294462,2	MCF-7	breast:
4	chr20:53293528..53294358-chr3:64499023..64499548,2	MCF-7	breast:
5	chr20:53291044..53293305-chr20:53298818..53301470,2	MCF-7	breast:
6	chr20:53286235..53288199-chr20:53294534..53296674,2	MCF-7	breast:
7	chr20:53293305..53299094-chr20:53306694..53312269,5	MCF-7	breast:
8	chr20:53291637..53293579-chr3:170973447..170976277,2	MCF-7	breast:
9	chr17:56735402..56737734-chr20:53294537..53297494,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185223886	chr20:53293013-53293014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567336984	chr20:53293076-53293077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142122506	chr20:53293085-53293086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141116829	chr20:53293088-53293089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148122349	chr20:53293090-53293091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569048338	chr20:53293091-53293092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398088639	chr20:53293099-53293100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6098153	chr20:53293146-53293147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530007901	chr20:53293149-53293150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549008736	chr20:53293150-53293151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368842266	chr20:53293157-53293158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6098154	chr20:53293172-53293173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565924431	chr20:53293174-53293175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190515032	chr20:53293194-53293195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2206906	chr20:53293207-53293208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs561990000	chr20:53293263-53293264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6098155	chr20:53293270-53293271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571451378	chr20:53293308-53293309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143896556	chr20:53293333-53293334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540206437	chr20:53293392-53293393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560325448	chr20:53293418-53293419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147278564	chr20:53293447-53293448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57537361	chr20:53293462-53293463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs386815256	chr20:53293469-53293470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2206907	chr20:53293470-53293471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6098156	chr20:53293478-53293479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573530496	chr20:53293497-53293498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545358501	chr20:53293502-53293503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565506661	chr20:53293555-53293556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138579355	chr20:53293561-53293562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542696190	chr20:53293569-53293570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183755256	chr20:53293580-53293581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12479859	chr20:53293596-53293597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs6091946	chr20:53293637-53293638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2206908	chr20:53293648-53293649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560282799	chr20:53293665-53293666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201648689	chr20:53293667-53293668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149308375	chr20:53293681-53293682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2223748	chr20:53293707-53293708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144606254	chr20:53293710-53293711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181193175	chr20:53293715-53293716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2223749	chr20:53293753-53293754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149192074	chr20:53293788-53293789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143201425	chr20:53293791-53293792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71196465	chr20:53293800-53293801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74859033	chr20:53293802-53293803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112102760	chr20:53293806-53293807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148468836	chr20:53293840-53293841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535964067	chr20:53293846-53293847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547759379	chr20:53293860-53293861	Weak transcription	n/a	n/a	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
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53290600-53296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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