Variant report

Variant	esv3400827
Chromosome Location	chr20:53291970-53293993
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	chr20:53291637..53293579-chr3:170973447..170976277,2	MCF-7	breast:
2	chr20:53291044..53293305-chr20:53298818..53301470,2	MCF-7	breast:
3	chr1:114889055..114889767-chr20:53293774..53294462,2	MCF-7	breast:
4	chr16:70414219..70416297-chr20:53291360..53294038,2	MCF-7	breast:
5	chr20:53293528..53294358-chr3:64499023..64499548,2	MCF-7	breast:
6	chr20:53293305..53299094-chr20:53306694..53312269,5	MCF-7	breast:
7	chr20:52823364..52826013-chr20:53290303..53292148,2	MCF-7	breast:
8	chr20:53290085..53292614-chr20:53295758..53297521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574764243	chr20:53291992-53291993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148388041	chr20:53292011-53292012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550798593	chr20:53292044-53292045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370554591	chr20:53292048-53292049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6014120	chr20:53292075-53292076	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140445908	chr20:53292077-53292078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11699951	chr20:53292088-53292089	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557804982	chr20:53292127-53292128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577568367	chr20:53292130-53292131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191636333	chr20:53292182-53292183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531922111	chr20:53292184-53292185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147024153	chr20:53292207-53292208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6023482	chr20:53292214-53292215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs543328784	chr20:53292224-53292225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559713611	chr20:53292227-53292228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6023483	chr20:53292230-53292231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184151044	chr20:53292260-53292261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138305842	chr20:53292297-53292298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188289891	chr20:53292335-53292336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550610264	chr20:53292346-53292347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6023484	chr20:53292364-53292365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6023485	chr20:53292377-53292378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555599623	chr20:53292405-53292406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565757098	chr20:53292406-53292407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534767860	chr20:53292419-53292420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557576239	chr20:53292437-53292438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577708383	chr20:53292439-53292440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543522047	chr20:53292510-53292511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557030482	chr20:53292571-53292572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193185988	chr20:53292575-53292576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576184410	chr20:53292587-53292588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201238721	chr20:53292666-53292667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199775258	chr20:53292667-53292668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200744485	chr20:53292668-53292669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112341973	chr20:53292767-53292768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113477713	chr20:53292833-53292834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543365378	chr20:53292866-53292867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6098152	chr20:53292943-53292944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559951247	chr20:53292962-53292963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199566507	chr20:53292963-53292964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200687391	chr20:53292964-53292965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201546847	chr20:53292965-53292966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530937577	chr20:53292980-53292981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185223886	chr20:53293013-53293014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567336984	chr20:53293076-53293077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142122506	chr20:53293085-53293086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141116829	chr20:53293088-53293089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148122349	chr20:53293090-53293091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569048338	chr20:53293091-53293092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398088639	chr20:53293099-53293100	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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