Variant report

Variant	esv3486500
Chromosome Location	chr6:132706884-132713457
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	chr6:132621208..132622414-chr6:132713427..132714582,10	MCF-7	breast:

Extended variants
information (count: 267 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73547914	chr6:132706888-132706889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369692142	chr6:132706980-132706981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543841916	chr6:132706988-132706989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535622313	chr6:132707013-132707014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562642976	chr6:132707014-132707015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548869812	chr6:132707017-132707018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565889847	chr6:132707028-132707029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534556527	chr6:132707032-132707033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557636990	chr6:132707058-132707059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577603680	chr6:132707073-132707074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141352450	chr6:132707096-132707097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557407403	chr6:132707102-132707103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532846366	chr6:132707104-132707105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543126365	chr6:132707154-132707155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182314074	chr6:132707156-132707157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188691696	chr6:132707175-132707176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545676965	chr6:132707208-132707209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375978957	chr6:132707210-132707211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562046512	chr6:132707242-132707243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375809094	chr6:132707287-132707288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111873188	chr6:132707295-132707296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113896109	chr6:132707298-132707299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111867716	chr6:132707307-132707308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565620024	chr6:132707313-132707314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369390860	chr6:132707316-132707317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113049230	chr6:132707334-132707335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532933765	chr6:132707337-132707338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112052865	chr6:132707338-132707339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549835163	chr6:132707342-132707343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112663248	chr6:132707382-132707383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570683281	chr6:132707402-132707403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528772715	chr6:132707404-132707405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563310578	chr6:132707409-132707410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202081845	chr6:132707433-132707434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9375881	chr6:132707443-132707444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528953912	chr6:132707458-132707459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9388990	chr6:132707466-132707467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546921295	chr6:132707475-132707476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202174454	chr6:132707477-132707478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373827424	chr6:132707489-132707490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549063595	chr6:132707495-132707496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565694322	chr6:132707498-132707499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376381983	chr6:132707557-132707558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59649740	chr6:132707568-132707569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9402402	chr6:132707572-132707573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568635860	chr6:132707577-132707578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535892159	chr6:132707579-132707580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369964748	chr6:132707584-132707585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368367679	chr6:132707585-132707586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9493299	chr6:132707586-132707587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
2	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
3	chr6:132701600-132709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:132702000-132709400	Weak transcription	Osteobl	bone
7	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
8	chr6:132706400-132707600	Weak transcription	NHDF-Ad	bronchial
9	chr6:132706400-132709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:132706400-132709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:132706400-132709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
13	chr6:132707600-132707800	Strong transcription	NHDF-Ad	bronchial
14	chr6:132707800-132709000	Weak transcription	NHDF-Ad	bronchial
15	chr6:132707800-132711800	Weak transcription	NHLF	lung
16	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
17	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:132709200-132709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:132709200-132709600	Enhancers	Fetal Kidney	kidney
20	chr6:132709200-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:132709200-132709800	Enhancers	NHEK	skin
22	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:132709400-132709600	Enhancers	Fetal Stomach	stomach
25	chr6:132709400-132709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:132709400-132709800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:132709400-132709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:132709400-132709800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:132709400-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:132709400-132709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:132709400-132709800	Enhancers	HMEC	breast
32	chr6:132709400-132709800	Enhancers	HSMM	muscle
33	chr6:132709400-132709800	Enhancers	NH-A	brain
34	chr6:132709400-132710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:132709400-132710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:132709400-132710200	Enhancers	Brain Germinal Matrix	brain
37	chr6:132709400-132710200	Enhancers	Osteobl	bone
38	chr6:132709400-132710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
41	chr6:132709600-132709800	Enhancers	Fetal Brain Female	brain
42	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
43	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:132709800-132712000	Weak transcription	HMEC	breast
45	chr6:132709800-132712200	Weak transcription	Fetal Stomach	stomach
46	chr6:132709800-132712400	Weak transcription	NHEK	skin
47	chr6:132709800-132712600	Weak transcription	Fetal Brain Female	brain
48	chr6:132709800-132712600	Weak transcription	HSMM	muscle
49	chr6:132709800-132712600	Weak transcription	NH-A	brain
50	chr6:132709800-132713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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