Variant report

Variant	nsv508417
Chromosome Location	chr6:81290516-81330590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:81314911..81315522-chr6:81785483..81786072,2	MCF-7	breast:
2	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:
3	chr6:81298968..81300811-chr6:81302050..81303773,2	MCF-7	breast:
4	chr6:81047806..81048624-chr6:81314824..81315362,2	MCF-7	breast:

Extended variants
information (count: 1230 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1230 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570612322	chr6:81294875-81294876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539272173	chr6:81294879-81294880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77473010	chr6:81294891-81294892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569619562	chr6:81294892-81294893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537810404	chr6:81294999-81295000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111438591	chr6:81295002-81295003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147456738	chr6:81295017-81295018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540703575	chr6:81295042-81295043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553986942	chr6:81295126-81295127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6915595	chr6:81295131-81295132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201812926	chr6:81295137-81295138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546423246	chr6:81295139-81295140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563134311	chr6:81295140-81295141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140008734	chr6:81295213-81295214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77686264	chr6:81295226-81295227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536346625	chr6:81295277-81295278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542589978	chr6:81295284-81295285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535529250	chr6:81295318-81295319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554347744	chr6:81295386-81295387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561704005	chr6:81295415-81295416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186857620	chr6:81295424-81295425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547434953	chr6:81295454-81295455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570478008	chr6:81295455-81295456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529096407	chr6:81295483-81295484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532917481	chr6:81295485-81295486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145434405	chr6:81295492-81295493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569557473	chr6:81295495-81295496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535340657	chr6:81295518-81295519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572662940	chr6:81295562-81295563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2168103	chr6:81295573-81295574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190062183	chr6:81295597-81295598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147828548	chr6:81295611-81295612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554192506	chr6:81295625-81295626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577276039	chr6:81295653-81295654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113639469	chr6:81295666-81295667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142692997	chr6:81295724-81295725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150999374	chr6:81295803-81295804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542526224	chr6:81295832-81295833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181062782	chr6:81295861-81295862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71553621	chr6:81295873-81295874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3079738	chr6:81295874-81295875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397838974	chr6:81295892-81295893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59725226	chr6:81295893-81295894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140878013	chr6:81295936-81295937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540677103	chr6:81295939-81295940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564170386	chr6:81295940-81295941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185490010	chr6:81296052-81296053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116694320	chr6:81296059-81296060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563125468	chr6:81296067-81296068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143212452	chr6:81296082-81296083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Developmental delay	21147756	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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81294800-81317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81301600-81303000	Enhancers	Fetal Lung	lung
3	chr6:81302200-81302600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:81304200-81304800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:81304400-81304800	Enhancers	HSMM	muscle
6	chr6:81304400-81304800	Enhancers	NHDF-Ad	bronchial
7	chr6:81314000-81314200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:81314200-81314400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:81314400-81314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:81314600-81315800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:81314800-81315000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:81314800-81315000	Enhancers	HSMM	muscle
13	chr6:81314800-81315000	Enhancers	Osteobl	bone
14	chr6:81314800-81315200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:81314800-81315200	Enhancers	Hela-S3	cervix
16	chr6:81314800-81315200	Enhancers	NHEK	skin
17	chr6:81314800-81315400	Enhancers	NHLF	lung
18	chr6:81314800-81315600	Enhancers	HMEC	breast
19	chr6:81314800-81316200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:81314800-81317800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:81314800-81321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:81315000-81316000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:81315000-81317000	Weak transcription	HSMM	muscle
24	chr6:81315200-81317000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:81315200-81317400	Weak transcription	NHEK	skin
26	chr6:81315200-81317800	Weak transcription	Hela-S3	cervix
27	chr6:81315400-81317000	Weak transcription	NHLF	lung
28	chr6:81315600-81317000	Weak transcription	HMEC	breast
29	chr6:81315800-81316800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:81316000-81316200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:81316200-81316600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:81316200-81317000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:81316600-81316800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:81316800-81317000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:81316800-81317800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:81316800-81318600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:81317000-81317600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:81317000-81317800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:81317000-81317800	Enhancers	Osteobl	bone
40	chr6:81317000-81318400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:81317000-81318400	Enhancers	Adipose Nuclei	Adipose
42	chr6:81317000-81318600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:81317000-81318800	Enhancers	NHLF	lung
44	chr6:81317000-81319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:81317000-81319000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:81317000-81321000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:81317000-81321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:81317000-81321000	Enhancers	HMEC	breast
49	chr6:81317000-81321000	Enhancers	HSMM	muscle
50	chr6:81317000-81321200	Enhancers	NHDF-Ad	bronchial

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