Variant report

Variant	esv13596
Chromosome Location	chr20:14422471-14439945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

Extended variants
information (count: 529 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118062473	chr20:14422491-14422492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533327305	chr20:14422501-14422502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182186771	chr20:14422517-14422518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189190838	chr20:14422518-14422519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193082272	chr20:14422520-14422521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549360176	chr20:14422554-14422555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569113924	chr20:14422596-14422597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538155199	chr20:14422608-14422609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185297290	chr20:14422616-14422617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79426661	chr20:14422667-14422668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533968808	chr20:14422736-14422737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373490458	chr20:14422737-14422738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573684371	chr20:14422744-14422745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535928119	chr20:14422765-14422766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556140568	chr20:14422825-14422826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575921268	chr20:14422876-14422877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148049337	chr20:14422906-14422907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375701790	chr20:14422990-14422991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577856499	chr20:14422994-14422995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529840771	chr20:14423033-14423034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188215417	chr20:14423045-14423046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151052144	chr20:14423094-14423095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560264519	chr20:14423157-14423158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141781159	chr20:14423160-14423161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549173470	chr20:14423169-14423170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562932156	chr20:14423175-14423176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150521515	chr20:14423193-14423194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186037055	chr20:14423201-14423202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571565319	chr20:14423249-14423250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77852661	chr20:14423280-14423281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547622839	chr20:14423286-14423287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567315418	chr20:14423349-14423350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555428578	chr20:14423363-14423364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536370002	chr20:14423374-14423375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555963664	chr20:14423375-14423376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576021130	chr20:14423392-14423393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538238556	chr20:14423415-14423416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534260292	chr20:14423428-14423429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62204396	chr20:14423445-14423446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577918222	chr20:14423450-14423451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112586199	chr20:14423477-14423478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6110290	chr20:14423494-14423495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183883141	chr20:14423518-14423519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34880844	chr20:14423539-14423540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188466841	chr20:14423550-14423551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77970192	chr20:14423564-14423565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577534223	chr20:14423568-14423569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545425200	chr20:14423582-14423583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543287174	chr20:14423597-14423598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527599798	chr20:14423618-14423619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14422200-14424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:14422200-14425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:14422200-14425800	Weak transcription	NHDF-Ad	bronchial
4	chr20:14422200-14426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:14422400-14425400	Weak transcription	HUVEC	blood vessel
6	chr20:14422400-14426000	Weak transcription	HMEC	breast
7	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:14424400-14425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:14424800-14425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:14425200-14426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel
13	chr20:14425600-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:14425800-14426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:14425800-14427200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:14425800-14427400	Enhancers	NHDF-Ad	bronchial
17	chr20:14425800-14427600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr20:14426000-14426800	Enhancers	HMEC	breast
19	chr20:14426200-14426600	Enhancers	A549	lung
20	chr20:14426200-14426600	Enhancers	NHEK	skin
21	chr20:14426200-14426800	Enhancers	Hela-S3	cervix
22	chr20:14426200-14427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:14426400-14426800	Enhancers	NHLF	lung
24	chr20:14426400-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:14426400-14430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:14426600-14429800	Weak transcription	A549	lung
27	chr20:14426600-14429800	Weak transcription	NHEK	skin
28	chr20:14426800-14427200	Weak transcription	Hela-S3	cervix
29	chr20:14426800-14429800	Weak transcription	NHLF	lung
30	chr20:14426800-14430400	Weak transcription	HMEC	breast
31	chr20:14427000-14427400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr20:14427000-14427400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr20:14427000-14427400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr20:14427000-14427600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr20:14427000-14429800	Weak transcription	HUVEC	blood vessel
36	chr20:14427200-14427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:14427200-14427400	Enhancers	Hela-S3	cervix
38	chr20:14427200-14428400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:14427200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
41	chr20:14427600-14429800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr20:14428200-14429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:14428400-14429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:14429000-14429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr20:14429200-14430400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:14429600-14430000	Enhancers	Brain Hippocampus Middle	brain
47	chr20:14429600-14430400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr20:14429600-14430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:14429600-14430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:14429600-14431600	Enhancers	Pancreatic Islets	Pancreatic Islet

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