Variant report

Variant	nsv585563
Chromosome Location	chr20:15017240-15113008
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	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:

Extended variants
information (count: 2541 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2541 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4814329	chr20:15017240-15017241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192907925	chr20:15017336-15017337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114841426	chr20:15017349-15017350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34708015	chr20:15017351-15017352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145275575	chr20:15017352-15017353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565409469	chr20:15017465-15017466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115414103	chr20:15017467-15017468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184465147	chr20:15017487-15017488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534884157	chr20:15017526-15017527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547186954	chr20:15017527-15017528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573451142	chr20:15017582-15017583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571781464	chr20:15017583-15017584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6034090	chr20:15017627-15017628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534511991	chr20:15017671-15017672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571592746	chr20:15017677-15017678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551034638	chr20:15017708-15017709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115147584	chr20:15017749-15017750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537051216	chr20:15017853-15017854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6043070	chr20:15017945-15017946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567385935	chr20:15018001-15018002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188103949	chr20:15018007-15018008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553014168	chr20:15018036-15018037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548357903	chr20:15018053-15018054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527294527	chr20:15018100-15018101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180729019	chr20:15018115-15018116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112421654	chr20:15018119-15018120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575149525	chr20:15018139-15018140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542633324	chr20:15018167-15018168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148244512	chr20:15018200-15018201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557039672	chr20:15018225-15018226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528452229	chr20:15018229-15018230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540400186	chr20:15018236-15018237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565374718	chr20:15018271-15018272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200941906	chr20:15018274-15018275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143091700	chr20:15018280-15018281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376840432	chr20:15018281-15018282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532634966	chr20:15018288-15018289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551111758	chr20:15018289-15018290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140979314	chr20:15018322-15018323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199569451	chr20:15018327-15018328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113033972	chr20:15018328-15018329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530384640	chr20:15018335-15018336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548886841	chr20:15018383-15018384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567300554	chr20:15018385-15018386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534612062	chr20:15018395-15018396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184786867	chr20:15018419-15018420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140415204	chr20:15018506-15018507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78708415	chr20:15018558-15018559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11087117	chr20:15018597-15018598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397739387	chr20:15018605-15018606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15015800-15018200	Enhancers	Fetal Thymus	thymus
2	chr20:15016400-15018200	Enhancers	Thymus	Thymus
3	chr20:15016400-15019400	Enhancers	Dnd41	blood
4	chr20:15017600-15018200	Enhancers	Primary T cells from cord blood	blood
5	chr20:15018200-15019200	Weak transcription	Fetal Thymus	thymus
6	chr20:15018200-15019200	Weak transcription	Thymus	Thymus
7	chr20:15019200-15019800	Enhancers	Placenta	Placenta
8	chr20:15019200-15020400	Enhancers	Fetal Kidney	kidney
9	chr20:15019200-15020400	Enhancers	Fetal Thymus	thymus
10	chr20:15019200-15020400	Enhancers	Thymus	Thymus
11	chr20:15019400-15020600	Enhancers	HMEC	breast
12	chr20:15019400-15025000	Weak transcription	Dnd41	blood
13	chr20:15019800-15020200	Enhancers	NHEK	skin
14	chr20:15019800-15020400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr20:15019800-15026000	Weak transcription	Placenta	Placenta
16	chr20:15020000-15020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:15020000-15020200	Enhancers	Fetal Intestine Small	intestine
18	chr20:15020000-15020400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr20:15020200-15025600	Weak transcription	NHEK	skin
20	chr20:15020200-15025800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:15020200-15027400	Weak transcription	Fetal Intestine Small	intestine
22	chr20:15020400-15024000	Weak transcription	Fetal Thymus	thymus
23	chr20:15020400-15025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:15020400-15025200	Weak transcription	Fetal Kidney	kidney
25	chr20:15020400-15026000	Weak transcription	Thymus	Thymus
26	chr20:15020600-15025200	Weak transcription	HMEC	breast
27	chr20:15023000-15024400	Enhancers	Ovary	ovary
28	chr20:15024000-15029000	Enhancers	Fetal Thymus	thymus
29	chr20:15024400-15024800	Weak transcription	Ovary	ovary
30	chr20:15024800-15026000	Enhancers	Ovary	ovary
31	chr20:15025000-15026200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr20:15025000-15026800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:15025000-15027600	Enhancers	Dnd41	blood
34	chr20:15025200-15026000	Bivalent Enhancer	Fetal Lung	lung
35	chr20:15025200-15026200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:15025200-15026200	Enhancers	Fetal Kidney	kidney
37	chr20:15025200-15026600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:15025200-15026800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:15025200-15026800	Enhancers	HMEC	breast
40	chr20:15025600-15026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:15025600-15026800	Enhancers	NHEK	skin
42	chr20:15025800-15026000	Enhancers	HepG2	liver
43	chr20:15025800-15026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:15025800-15026200	Enhancers	Adipose Nuclei	Adipose
45	chr20:15025800-15026200	Enhancers	Fetal Heart	heart
46	chr20:15025800-15026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr20:15025800-15026800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:15026000-15026200	Enhancers	Placenta	Placenta
49	chr20:15026000-15026800	Enhancers	Thymus	Thymus
50	chr20:15026000-15027000	Weak transcription	Ovary	ovary

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