Variant report

Variant	nsv1057619
Chromosome Location	chr20:15301890-15317978
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	chr20:14335576..14337791-chr20:15315333..15317078,2	MCF-7	breast:
2	chr20:15293454..15295061-chr20:15304426..15306908,2	MCF-7	breast:

Extended variants
information (count: 616 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548923177	chr20:15301908-15301909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376157809	chr20:15301980-15301981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186805254	chr20:15302001-15302002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578103367	chr20:15302046-15302047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115165013	chr20:15302100-15302101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117150903	chr20:15302261-15302262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527672148	chr20:15302309-15302310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372997142	chr20:15302438-15302439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191764327	chr20:15302452-15302453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149543954	chr20:15302488-15302489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183110452	chr20:15302492-15302493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540963941	chr20:15302522-15302523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565235516	chr20:15302572-15302573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532621844	chr20:15302585-15302586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536632433	chr20:15302654-15302655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187137211	chr20:15302714-15302715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569276750	chr20:15302780-15302781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117493779	chr20:15302793-15302794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199846303	chr20:15302858-15302859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548787971	chr20:15302881-15302882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2423921	chr20:15302888-15302889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377359200	chr20:15302897-15302898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573372855	chr20:15302948-15302949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571572872	chr20:15302977-15302978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559015455	chr20:15302979-15302980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538899370	chr20:15303013-15303014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557410146	chr20:15303037-15303038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144128072	chr20:15303173-15303174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535334849	chr20:15303178-15303179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536789758	chr20:15303207-15303208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566001679	chr20:15303216-15303217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148622739	chr20:15303268-15303269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6079749	chr20:15303290-15303291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573432472	chr20:15303307-15303308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535224911	chr20:15303369-15303370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540474049	chr20:15303405-15303406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36029610	chr20:15303451-15303452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565097113	chr20:15303462-15303463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558112529	chr20:15303498-15303499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191649045	chr20:15303519-15303520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182316393	chr20:15303586-15303587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544481600	chr20:15303624-15303625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573801994	chr20:15303625-15303626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6110571	chr20:15303701-15303702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562978462	chr20:15303715-15303716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200298995	chr20:15303739-15303740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549107010	chr20:15303742-15303743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560821377	chr20:15303748-15303749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201224416	chr20:15303767-15303768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186684303	chr20:15303774-15303775	Enhancers Weak transcription	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15298800-15302000	Enhancers	Primary B cells from peripheral blood	blood
2	chr20:15300400-15302000	Enhancers	GM12878-XiMat	blood
3	chr20:15300600-15302000	Enhancers	Psoas Muscle	Psoas
4	chr20:15300800-15302400	Enhancers	HMEC	breast
5	chr20:15301000-15302000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr20:15301000-15302400	Enhancers	Fetal Heart	heart
7	chr20:15301200-15302200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:15301400-15302000	Enhancers	Adipose Nuclei	Adipose
9	chr20:15301400-15302200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:15301400-15302400	Enhancers	NHEK	skin
11	chr20:15301600-15302600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr20:15301800-15302200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:15302000-15303600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:15302200-15303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:15302200-15303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:15302400-15303200	Weak transcription	Fetal Heart	heart
17	chr20:15302400-15303200	Weak transcription	HMEC	breast
18	chr20:15302600-15304800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:15303200-15303400	Enhancers	HMEC	breast
20	chr20:15303200-15303800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:15303200-15304200	Enhancers	Fetal Heart	heart
22	chr20:15303400-15308800	Weak transcription	HMEC	breast
23	chr20:15303800-15304000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:15304200-15311000	Weak transcription	Fetal Heart	heart
25	chr20:15304800-15308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr20:15305600-15306400	Enhancers	Gastric	stomach
27	chr20:15306000-15306400	Enhancers	Liver	Liver
28	chr20:15308400-15309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr20:15308600-15309000	Enhancers	NHEK	skin
30	chr20:15308800-15309400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr20:15308800-15309400	Enhancers	HMEC	breast
32	chr20:15309400-15310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr20:15311000-15311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr20:15311000-15311600	Enhancers	Fetal Heart	heart
35	chr20:15311400-15311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr20:15311800-15312600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:15312600-15312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:15312600-15313000	Enhancers	GM12878-XiMat	blood
39	chr20:15312800-15313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr20:15313000-15313400	Weak transcription	GM12878-XiMat	blood
41	chr20:15313000-15313600	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:15313400-15313600	Active TSS	GM12878-XiMat	blood
43	chr20:15313600-15313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr20:15313600-15314000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr20:15313600-15315000	Flanking Active TSS	GM12878-XiMat	blood
46	chr20:15314000-15314200	Enhancers	Primary B cells from peripheral blood	blood
47	chr20:15315000-15315400	Active TSS	GM12878-XiMat	blood
48	chr20:15315000-15316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:15315400-15315600	Enhancers	GM12878-XiMat	blood
50	chr20:15315600-15315800	Flanking Active TSS	GM12878-XiMat	blood

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