Variant report

Variant	esv2763219
Chromosome Location	chr20:14415228-14455497
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:
2	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

Extended variants
information (count: 1293 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41515148	chr20:14415228-14415229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537690138	chr20:14415239-14415240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139993314	chr20:14415276-14415277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558548638	chr20:14415418-14415419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141848206	chr20:14415511-14415512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181328060	chr20:14415526-14415527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553014952	chr20:14415575-14415576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572936553	chr20:14415582-14415583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529584330	chr20:14415586-14415587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186398447	chr20:14415611-14415612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555290719	chr20:14415616-14415617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575178863	chr20:14415648-14415649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374874363	chr20:14415720-14415721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6079440	chr20:14415748-14415749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544456157	chr20:14415755-14415756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78946627	chr20:14415758-14415759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577742037	chr20:14415805-14415806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539970722	chr20:14415814-14415815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544896932	chr20:14415876-14415877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139077076	chr20:14415899-14415900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142570729	chr20:14415937-14415938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548988592	chr20:14415940-14415941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562425203	chr20:14415957-14415958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6079441	chr20:14415986-14415987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531112563	chr20:14416012-14416013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58080104	chr20:14416021-14416022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566381261	chr20:14416025-14416026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6079442	chr20:14416029-14416030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189481423	chr20:14416049-14416050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150949771	chr20:14416056-14416057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566622942	chr20:14416108-14416109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115889437	chr20:14416160-14416161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377111036	chr20:14416176-14416177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181029592	chr20:14416195-14416196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73256927	chr20:14416224-14416225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537775287	chr20:14416229-14416230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557999906	chr20:14416230-14416231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577787073	chr20:14416258-14416259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540422382	chr20:14416301-14416302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79015429	chr20:14416323-14416324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66776909	chr20:14416358-14416359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573787933	chr20:14416363-14416364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397721969	chr20:14416370-14416371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75420960	chr20:14416378-14416379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562488030	chr20:14416381-14416382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531301187	chr20:14416433-14416434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185067471	chr20:14416450-14416451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564779684	chr20:14416472-14416473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529263467	chr20:14416479-14416480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117209860	chr20:14416498-14416499	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:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14414200-14416200	Enhancers	HMEC	breast
2	chr20:14414600-14416200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14414600-14416200	Enhancers	NHEK	skin
4	chr20:14414800-14416000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr20:14415000-14415800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:14415000-14416000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:14415000-14416000	Enhancers	Hela-S3	cervix
8	chr20:14415000-14420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:14415200-14416000	Enhancers	NHDF-Ad	bronchial
10	chr20:14415400-14416200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:14416200-14418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:14416200-14418800	Weak transcription	NHEK	skin
13	chr20:14418800-14419200	Enhancers	NHEK	skin
14	chr20:14418800-14419800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:14419800-14421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:14420400-14421600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:14420600-14420800	Enhancers	HMEC	breast
18	chr20:14420600-14421000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:14420800-14421400	Weak transcription	HMEC	breast
20	chr20:14421000-14421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr20:14421400-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:14421400-14422400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:14421400-14422400	Enhancers	HMEC	breast
24	chr20:14421800-14422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr20:14421800-14422200	Enhancers	NHDF-Ad	bronchial
26	chr20:14422000-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:14422000-14422400	Enhancers	HUVEC	blood vessel
28	chr20:14422200-14424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:14422200-14425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:14422200-14425800	Weak transcription	NHDF-Ad	bronchial
31	chr20:14422200-14426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr20:14422400-14425400	Weak transcription	HUVEC	blood vessel
33	chr20:14422400-14426000	Weak transcription	HMEC	breast
34	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:14424400-14425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:14424800-14425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr20:14425200-14426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel
40	chr20:14425600-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:14425800-14426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:14425800-14427200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:14425800-14427400	Enhancers	NHDF-Ad	bronchial
44	chr20:14425800-14427600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr20:14426000-14426800	Enhancers	HMEC	breast
46	chr20:14426200-14426600	Enhancers	A549	lung
47	chr20:14426200-14426600	Enhancers	NHEK	skin
48	chr20:14426200-14426800	Enhancers	Hela-S3	cervix
49	chr20:14426200-14427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:14426400-14426800	Enhancers	NHLF	lung

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