Variant report

Variant	esv17576
Chromosome Location	chr20:53289505-53294132
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53290085..53292614-chr20:53295758..53297521,2	MCF-7	breast:
2	chr20:52823364..52826013-chr20:53290303..53292148,2	MCF-7	breast:
3	chr20:53291637..53293579-chr3:170973447..170976277,2	MCF-7	breast:
4	chr17:75007000..75007794-chr20:53289529..53290339,2	MCF-7	breast:
5	chr20:53291044..53293305-chr20:53298818..53301470,2	MCF-7	breast:
6	chr20:53293305..53299094-chr20:53306694..53312269,5	MCF-7	breast:
7	chr20:53293528..53294358-chr3:64499023..64499548,2	MCF-7	breast:
8	chr2:47214206..47214770-chr20:53290236..53290902,2	MCF-7	breast:
9	chr1:114889055..114889767-chr20:53293774..53294462,2	MCF-7	breast:
10	chr20:53290237..53291789-chr3:64522620..64525418,2	MCF-7	breast:
11	chr16:70414219..70416297-chr20:53291360..53294038,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574696955	chr20:53289505-53289506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376150992	chr20:53289534-53289535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79238680	chr20:53289557-53289558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386815255	chr20:53289597-53289598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2870347	chr20:53289598-53289599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117894113	chr20:53289614-53289615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562936676	chr20:53289615-53289616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368071284	chr20:53289626-53289627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114485195	chr20:53289630-53289631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2870348	chr20:53289631-53289632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2870349	chr20:53289643-53289644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529920902	chr20:53289664-53289665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546856129	chr20:53289665-53289666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566544037	chr20:53289704-53289705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538753031	chr20:53289709-53289710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551968985	chr20:53289746-53289747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566557979	chr20:53289763-53289764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55924953	chr20:53289798-53289799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537420151	chr20:53289812-53289813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554852539	chr20:53289830-53289831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185393364	chr20:53289832-53289833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75883969	chr20:53289842-53289843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554372824	chr20:53289843-53289844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74500173	chr20:53289851-53289852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202247276	chr20:53289852-53289853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77056791	chr20:53289853-53289854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577353242	chr20:53289855-53289856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568983680	chr20:53289917-53289918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546295781	chr20:53289954-53289955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549322035	chr20:53289956-53289957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190050957	chr20:53289961-53289962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1569730	chr20:53289977-53289978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs542201714	chr20:53289990-53289991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540303351	chr20:53289994-53289995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564980192	chr20:53289997-53289998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562051017	chr20:53290002-53290003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376699642	chr20:53290039-53290040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1013661	chr20:53290058-53290059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371806663	chr20:53290061-53290062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540133273	chr20:53290065-53290066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560328825	chr20:53290086-53290087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532174092	chr20:53290157-53290158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552270454	chr20:53290196-53290197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557862663	chr20:53290208-53290209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11907565	chr20:53290250-53290251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181416162	chr20:53290257-53290258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200006430	chr20:53290268-53290269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567697138	chr20:53290286-53290287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534258417	chr20:53290288-53290289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554138412	chr20:53290327-53290328	Enhancers	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
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53285600-53290000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr20:53290000-53290400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:53290200-53290600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:53290600-53296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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