Variant report

Variant	esv3693285
Chromosome Location	chr20:14425337-14449184
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: 655 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6131581	chr20:14425337-14425338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572089447	chr20:14425379-14425380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551885908	chr20:14425385-14425386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113053339	chr20:14425429-14425430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528144940	chr20:14425433-14425434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547888213	chr20:14425473-14425474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190492856	chr20:14425477-14425478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534382023	chr20:14425481-14425482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111356701	chr20:14425484-14425485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577173365	chr20:14425487-14425488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181341460	chr20:14425505-14425506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149118470	chr20:14425525-14425526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78531094	chr20:14425612-14425613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543323921	chr20:14425646-14425647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570297840	chr20:14425656-14425657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185804588	chr20:14425735-14425736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559138855	chr20:14426022-14426023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190180509	chr20:14426047-14426048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535076638	chr20:14426064-14426065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143168884	chr20:14426105-14426106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62204398	chr20:14426106-14426107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543378431	chr20:14426134-14426135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563224978	chr20:14426141-14426142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369834507	chr20:14426142-14426143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573801532	chr20:14426159-14426160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576675362	chr20:14426169-14426170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545598672	chr20:14426341-14426342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542785349	chr20:14426375-14426376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559084502	chr20:14426406-14426407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34434466	chr20:14426442-14426443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527807507	chr20:14426450-14426451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6074739	chr20:14426495-14426496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75604692	chr20:14426554-14426555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561557458	chr20:14426649-14426650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541489949	chr20:14426710-14426711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142672869	chr20:14426720-14426721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550537397	chr20:14426769-14426770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6074740	chr20:14426787-14426788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539290578	chr20:14426798-14426799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13044911	chr20:14426808-14426809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550251525	chr20:14426873-14426874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146960240	chr20:14426880-14426881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6074741	chr20:14426892-14426893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182450593	chr20:14426898-14426899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187585209	chr20:14426969-14426970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537441346	chr20:14426988-14426989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138055134	chr20:14427002-14427003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574223531	chr20:14427026-14427027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143521901	chr20:14427097-14427098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529494582	chr20:14427226-14427227	Enhancers 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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14422200-14425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:14422200-14425800	Weak transcription	NHDF-Ad	bronchial
3	chr20:14422200-14426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:14422400-14425400	Weak transcription	HUVEC	blood vessel
5	chr20:14422400-14426000	Weak transcription	HMEC	breast
6	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:14425200-14426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel
10	chr20:14425600-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr20:14425800-14426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:14425800-14427200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr20:14425800-14427400	Enhancers	NHDF-Ad	bronchial
14	chr20:14425800-14427600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:14426000-14426800	Enhancers	HMEC	breast
16	chr20:14426200-14426600	Enhancers	A549	lung
17	chr20:14426200-14426600	Enhancers	NHEK	skin
18	chr20:14426200-14426800	Enhancers	Hela-S3	cervix
19	chr20:14426200-14427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:14426400-14426800	Enhancers	NHLF	lung
21	chr20:14426400-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:14426400-14430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:14426600-14429800	Weak transcription	A549	lung
24	chr20:14426600-14429800	Weak transcription	NHEK	skin
25	chr20:14426800-14427200	Weak transcription	Hela-S3	cervix
26	chr20:14426800-14429800	Weak transcription	NHLF	lung
27	chr20:14426800-14430400	Weak transcription	HMEC	breast
28	chr20:14427000-14427400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr20:14427000-14427400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr20:14427000-14427400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr20:14427000-14427600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:14427000-14429800	Weak transcription	HUVEC	blood vessel
33	chr20:14427200-14427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:14427200-14427400	Enhancers	Hela-S3	cervix
35	chr20:14427200-14428400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:14427200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
38	chr20:14427600-14429800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr20:14428200-14429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:14428400-14429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:14429000-14429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr20:14429200-14430400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:14429600-14430000	Enhancers	Brain Hippocampus Middle	brain
44	chr20:14429600-14430400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr20:14429600-14430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:14429600-14430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:14429600-14431600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr20:14429800-14430200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr20:14429800-14430200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:14429800-14430600	Enhancers	Muscle Satellite Cultured Cells	--

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