Variant report

Variant	nsv585583
Chromosome Location	chr20:15289701-15303701
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	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:

Extended variants
information (count: 471 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16995525	chr20:15289701-15289702	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150445916	chr20:15289765-15289766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112627878	chr20:15289791-15289792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550684276	chr20:15289832-15289833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs193216526	chr20:15289845-15289846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184356407	chr20:15289887-15289888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368164127	chr20:15289932-15289933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548407510	chr20:15289985-15289986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138337272	chr20:15290052-15290053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534118392	chr20:15290074-15290075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371620343	chr20:15290173-15290174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558551355	chr20:15290183-15290184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188831255	chr20:15290262-15290263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537844817	chr20:15290295-15290296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111322902	chr20:15290311-15290312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191749156	chr20:15290346-15290347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146898235	chr20:15290349-15290350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183937476	chr20:15290387-15290388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189573199	chr20:15290407-15290408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368299261	chr20:15290436-15290437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546502120	chr20:15290451-15290452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs75023571	chr20:15290466-15290467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376661534	chr20:15290505-15290506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543859704	chr20:15290556-15290557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6034153	chr20:15290575-15290576	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371676498	chr20:15290588-15290589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557298558	chr20:15290638-15290639	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529831641	chr20:15290680-15290681	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548280030	chr20:15290723-15290724	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573977789	chr20:15290739-15290740	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7345651	chr20:15290778-15290779	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs117526792	chr20:15290797-15290798	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139074093	chr20:15290810-15290811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369393001	chr20:15290844-15290845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572904266	chr20:15290853-15290854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142990278	chr20:15290859-15290860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528298251	chr20:15290899-15290900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373611591	chr20:15290958-15290959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538099588	chr20:15291003-15291004	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs180841772	chr20:15291004-15291005	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112734190	chr20:15291161-15291162	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568077557	chr20:15291169-15291170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187634430	chr20:15291190-15291191	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553824770	chr20:15291197-15291198	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572633088	chr20:15291235-15291236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539635682	chr20:15291262-15291263	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149327473	chr20:15291280-15291281	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558474619	chr20:15291321-15291322	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74552501	chr20:15291348-15291349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs199695830	chr20:15291368-15291369	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15285800-15291000	Weak transcription	HMEC	breast
2	chr20:15289400-15290800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr20:15290600-15291600	Enhancers	HUVEC	blood vessel
4	chr20:15290600-15292600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:15290800-15291000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr20:15291000-15291400	Enhancers	HMEC	breast
7	chr20:15291000-15291600	Enhancers	Primary B cells from peripheral blood	blood
8	chr20:15291000-15291800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr20:15291200-15291600	Enhancers	Hela-S3	cervix
10	chr20:15291600-15297000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr20:15291800-15292400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr20:15293800-15294200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr20:15294800-15295200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr20:15295400-15297200	Enhancers	GM12878-XiMat	blood
15	chr20:15296000-15296200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr20:15296200-15297200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr20:15296200-15298400	Weak transcription	Primary B cells from cord blood	blood
18	chr20:15296600-15296800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:15296800-15297400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr20:15297000-15297400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr20:15297200-15298000	Flanking Active TSS	GM12878-XiMat	blood
22	chr20:15297200-15301000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr20:15297400-15298200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr20:15297400-15298600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr20:15298000-15298400	Active TSS	GM12878-XiMat	blood
26	chr20:15298200-15298400	Enhancers	Primary B cells from peripheral blood	blood
27	chr20:15298200-15298600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr20:15298400-15298600	Flanking Active TSS	GM12878-XiMat	blood
29	chr20:15298400-15298800	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr20:15298400-15299800	Active TSS	Primary B cells from cord blood	blood
31	chr20:15298600-15298800	Active TSS	GM12878-XiMat	blood
32	chr20:15298600-15299000	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr20:15298800-15299200	Flanking Active TSS	GM12878-XiMat	blood
34	chr20:15298800-15302000	Enhancers	Primary B cells from peripheral blood	blood
35	chr20:15299000-15299800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr20:15299200-15299600	Active TSS	GM12878-XiMat	blood
37	chr20:15299600-15300400	Flanking Active TSS	GM12878-XiMat	blood
38	chr20:15299800-15300000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr20:15300000-15300400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr20:15300400-15302000	Enhancers	GM12878-XiMat	blood
41	chr20:15300600-15302000	Enhancers	Psoas Muscle	Psoas
42	chr20:15300800-15301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr20:15300800-15302400	Enhancers	HMEC	breast
44	chr20:15301000-15302000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr20:15301000-15302400	Enhancers	Fetal Heart	heart
46	chr20:15301200-15302200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:15301400-15302000	Enhancers	Adipose Nuclei	Adipose
48	chr20:15301400-15302200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:15301400-15302400	Enhancers	NHEK	skin
50	chr20:15301600-15302600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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