Variant report

Variant	esv3379763
Chromosome Location	chr20:53464970-53467518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53467255..53472616-chr20:53474478..53478474,4	MCF-7	breast:
2	chr20:53319613..53321737-chr20:53464141..53465830,2	MCF-7	breast:
3	chr17:59939806..59941342-chr20:53462560..53465065,2	MCF-7	breast:
4	chr20:53465234..53466924-chr20:53468831..53471072,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252089	chromatin interactions
ENSG00000136492	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192949179	chr20:53465027-53465028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115595436	chr20:53465030-53465031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576291996	chr20:53465034-53465035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145883798	chr20:53465802-53465803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575249260	chr20:53465822-53465823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180807846	chr20:53465870-53465871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556839760	chr20:53465891-53465892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573837873	chr20:53465916-53465917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78879634	chr20:53465922-53465923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113569199	chr20:53465941-53465942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559479337	chr20:53465948-53465949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572888503	chr20:53465955-53465956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577192631	chr20:53465967-53465968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11697764	chr20:53465976-53465977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564946344	chr20:53465980-53465981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183802685	chr20:53466007-53466008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5842022	chr20:53466029-53466030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112847039	chr20:53466031-53466032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5842023	chr20:53466040-53466041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5842024	chr20:53466048-53466049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5842025	chr20:53466058-53466059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5842026	chr20:53466062-53466063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397978542	chr20:53466067-53466068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5842027	chr20:53466072-53466073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397978543	chr20:53466074-53466075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs5842028	chr20:53466078-53466079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77380032	chr20:53466079-53466080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530526605	chr20:53466080-53466081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5842029	chr20:53466088-53466089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5842030	chr20:53466094-53466095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34712433	chr20:53466095-53466096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5842031	chr20:53466104-53466105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386815273	chr20:53466105-53466106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5842032	chr20:53466110-53466111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397978539	chr20:53466111-53466112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550557877	chr20:53466115-53466116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5842033	chr20:53466120-53466121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397978540	chr20:53466121-53466122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561468230	chr20:53466128-53466129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368900082	chr20:53466141-53466142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59576624	chr20:53466142-53466143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397978541	chr20:53466143-53466144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111359122	chr20:53466150-53466151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59926199	chr20:53466153-53466154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397708319	chr20:53466154-53466155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3044998	chr20:53466202-53466203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386394052	chr20:53466203-53466204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386394053	chr20:53466204-53466205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397745927	chr20:53466205-53466206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9753658	chr20:53466234-53466235	Enhancers	n/a	n/a	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53465800-53467000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:53466400-53467400	Enhancers	Brain Germinal Matrix	brain
3	chr20:53466600-53467000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:53467000-53467400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:53467000-53467400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:53467400-53467600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:53467400-53468400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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