Variant report

Variant	nsv5372
Chromosome Location	chr6:81912685-81957712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44005667..44006443-chr6:81951149..81952062,2	MCF-7	breast:
2	chr6:81951165..81951953-chr6:82175557..82176202,3	MCF-7	breast:
3	chr6:81951603..81952598-chr6:82463481..82464052,2	MCF-7	breast:

Extended variants
information (count: 737 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531769103	chr6:81912685-81912686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181493056	chr6:81912707-81912708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184538208	chr6:81912720-81912721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531352551	chr6:81912825-81912826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9294216	chr6:81912829-81912830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138758768	chr6:81912868-81912869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188560195	chr6:81912891-81912892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181324534	chr6:81912892-81912893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550484837	chr6:81912897-81912898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373988899	chr6:81912977-81912978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149513977	chr6:81913023-81913024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185249223	chr6:81913024-81913025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144007590	chr6:81913049-81913050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566619906	chr6:81913055-81913056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190889327	chr6:81913065-81913066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533982488	chr6:81913081-81913082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201996401	chr6:81913109-81913110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557863413	chr6:81913113-81913114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533657473	chr6:81913134-81913135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543239674	chr6:81913164-81913165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13211172	chr6:81913175-81913176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557266551	chr6:81913265-81913266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6906411	chr6:81913276-81913277	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78211538	chr6:81913284-81913285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561763834	chr6:81913311-81913312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527652571	chr6:81913387-81913388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148240777	chr6:81913404-81913405	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564411287	chr6:81913618-81913619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535976418	chr6:81913785-81913786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533615744	chr6:81913796-81913797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142927610	chr6:81913807-81913808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147428031	chr6:81913814-81913815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4316044	chr6:81913840-81913841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182387103	chr6:81913854-81913855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369537687	chr6:81913876-81913877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57503056	chr6:81913882-81913883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551491236	chr6:81913883-81913884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2323150	chr6:81913895-81913896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376010377	chr6:81913902-81913903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144976661	chr6:81913969-81913970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573466049	chr6:81914009-81914010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536164561	chr6:81914056-81914057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187016789	chr6:81914064-81914065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572142537	chr6:81914067-81914068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541020323	chr6:81914115-81914116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60777506	chr6:81914120-81914121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578037898	chr6:81914141-81914142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139498624	chr6:81914153-81914154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529486791	chr6:81914160-81914161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192309534	chr6:81914239-81914240	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81912000-81917200	Weak transcription	Aorta	Aorta
2	chr6:81913200-81913600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:81913400-81915000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:81913600-81914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:81913600-81914200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:81914000-81914400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:81914000-81915000	Enhancers	Osteobl	bone
8	chr6:81914200-81914600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:81914200-81914800	Enhancers	HSMMtube	muscle
10	chr6:81914200-81914800	Enhancers	NHDF-Ad	bronchial
11	chr6:81914200-81915000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:81914200-81915000	Enhancers	Adipose Nuclei	Adipose
13	chr6:81914200-81915200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:81914400-81914800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:81914400-81914800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:81914400-81914800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:81914400-81914800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:81914400-81914800	Enhancers	HSMM	muscle
19	chr6:81914400-81915000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:81914400-81915200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:81914600-81914800	Enhancers	Brain Hippocampus Middle	brain
22	chr6:81914600-81915600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:81915000-81916400	Weak transcription	Adipose Nuclei	Adipose
24	chr6:81915600-81916600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:81916400-81917200	Enhancers	Adipose Nuclei	Adipose
26	chr6:81916600-81917800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:81917200-81917400	Enhancers	Aorta	Aorta
28	chr6:81917400-81918000	Weak transcription	Aorta	Aorta
29	chr6:81924400-81925200	Active TSS	HepG2	liver
30	chr6:81926600-81927400	Enhancers	Placenta	Placenta
31	chr6:81929000-81929600	Enhancers	Fetal Heart	heart
32	chr6:81931000-81931600	Enhancers	Aorta	Aorta
33	chr6:81931800-81932200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:81936400-81937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:81938600-81938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:81938800-81939000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:81938800-81939000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:81938800-81939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:81938800-81939600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:81938800-81939600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:81938800-81939600	Enhancers	Fetal Lung	lung
42	chr6:81938800-81939600	Enhancers	Dnd41	blood
43	chr6:81938800-81939600	Enhancers	Osteobl	bone
44	chr6:81939000-81939200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:81939000-81939200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:81939000-81939400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:81939000-81939400	Enhancers	Colon Smooth Muscle	Colon
48	chr6:81939200-81939400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:81939200-81939400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:81939200-81939400	Enhancers	NHDF-Ad	bronchial

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