Variant report

Variant	esv3381893
Chromosome Location	chr20:13017652-13022050
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	chr20:13010524..13012462-chr20:13019943..13021816,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527239467	chr20:13017658-13017659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186389553	chr20:13017660-13017661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537378642	chr20:13017672-13017673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151213116	chr20:13017674-13017675	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550952511	chr20:13017685-13017686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6041787	chr20:13017724-13017725	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190905305	chr20:13017735-13017736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200208607	chr20:13017795-13017796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148204296	chr20:13017849-13017850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553142136	chr20:13017850-13017851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180964872	chr20:13017855-13017856	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73898287	chr20:13017932-13017933	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555634531	chr20:13017946-13017947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575585975	chr20:13017978-13017979	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6041788	chr20:13018056-13018057	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142744142	chr20:13018059-13018060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577520015	chr20:13018076-13018077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187289338	chr20:13018093-13018094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559782693	chr20:13018102-13018103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528992071	chr20:13018107-13018108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7346290	chr20:13018153-13018154	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556369759	chr20:13018204-13018205	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147386233	chr20:13018223-13018224	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6041789	chr20:13018263-13018264	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550949166	chr20:13018290-13018291	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138035073	chr20:13018303-13018304	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115638893	chr20:13018313-13018314	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547030496	chr20:13018340-13018341	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6109664	chr20:13018351-13018352	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191014152	chr20:13018352-13018353	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35197566	chr20:13018412-13018413	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6078895	chr20:13018450-13018451	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182844790	chr20:13018468-13018469	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13038417	chr20:13018469-13018470	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6041790	chr20:13018494-13018495	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577885842	chr20:13018517-13018518	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539832242	chr20:13018536-13018537	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187524291	chr20:13018557-13018558	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573400600	chr20:13018670-13018671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7343449	chr20:13018671-13018672	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562255284	chr20:13018679-13018680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6134752	chr20:13018692-13018693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74181398	chr20:13018693-13018694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375213350	chr20:13018694-13018695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200871337	chr20:13018708-13018709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117160448	chr20:13018737-13018738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537164739	chr20:13018748-13018749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564588085	chr20:13018752-13018753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79019309	chr20:13018784-13018785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546993825	chr20:13018801-13018802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Autism	22102821	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13003800-13026400	Weak transcription	Aorta	Aorta
2	chr20:13003800-13049600	Weak transcription	Lung	lung
3	chr20:13004000-13027200	Weak transcription	Pancreas	Pancrea
4	chr20:13004000-13029200	Weak transcription	Ovary	ovary
5	chr20:13011000-13022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:13011200-13018800	Strong transcription	HepG2	liver
7	chr20:13011400-13026800	Weak transcription	Stomach Mucosa	stomach
8	chr20:13011600-13017800	Weak transcription	NHDF-Ad	bronchial
9	chr20:13011600-13023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:13011800-13029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:13012000-13018200	Weak transcription	HSMM	muscle
12	chr20:13012400-13018200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr20:13013400-13022600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:13013400-13023600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:13015000-13018200	Weak transcription	NHEK	skin
16	chr20:13015400-13018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:13016000-13018200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr20:13016000-13026600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:13016400-13023800	Weak transcription	Placenta	Placenta
20	chr20:13016400-13027000	Weak transcription	Liver	Liver
21	chr20:13016600-13018400	Enhancers	Fetal Intestine Large	intestine
22	chr20:13017400-13018000	Weak transcription	Fetal Intestine Small	intestine
23	chr20:13017800-13019000	Enhancers	NHDF-Ad	bronchial
24	chr20:13018000-13018200	Enhancers	Fetal Intestine Small	intestine
25	chr20:13018000-13018600	Enhancers	Osteobl	bone
26	chr20:13018000-13019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:13018200-13018400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr20:13018200-13018600	Enhancers	HSMM	muscle
29	chr20:13018200-13018600	Genic enhancers	NHEK	skin
30	chr20:13018200-13019000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr20:13018200-13027200	Weak transcription	Fetal Intestine Small	intestine
32	chr20:13018400-13019000	Enhancers	NHLF	lung
33	chr20:13018400-13026600	Weak transcription	Fetal Intestine Large	intestine
34	chr20:13018600-13021800	Weak transcription	Osteobl	bone
35	chr20:13018600-13022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:13018600-13041800	Weak transcription	NHEK	skin
37	chr20:13018800-13022600	Weak transcription	HepG2	liver
38	chr20:13019000-13021800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr20:13019000-13022400	Weak transcription	NHLF	lung
40	chr20:13019400-13021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:13021600-13024000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:13021800-13022400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr20:13021800-13022400	Enhancers	Osteobl	bone

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