Variant report

Variant	nsv5480
Chromosome Location	chr6:132705614-132714040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132621360..132622167-chr6:132713670..132714516,2	MCF-7	breast:
2	chr6:132600570..132601283-chr6:132713650..132714534,4	K562	blood:
3	chr6:132621208..132622414-chr6:132713427..132714582,10	MCF-7	breast:
4	chr6:132600674..132601355-chr6:132713689..132714612,2	MCF-7	breast:

Extended variants
information (count: 341 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529470748	chr6:132705624-132705625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191141715	chr6:132705631-132705632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566292391	chr6:132705647-132705648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9483440	chr6:132705657-132705658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200034187	chr6:132705661-132705662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576469135	chr6:132705742-132705743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9375880	chr6:132705804-132705805	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148292472	chr6:132705819-132705820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35268820	chr6:132705820-132705821	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372760885	chr6:132705823-132705824	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397730813	chr6:132705824-132705825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35671932	chr6:132705855-132705856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150798065	chr6:132705904-132705905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373161773	chr6:132705979-132705980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373673834	chr6:132706026-132706027	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539512681	chr6:132706105-132706106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556297910	chr6:132706144-132706145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569793901	chr6:132706162-132706163	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139223676	chr6:132706167-132706168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149954041	chr6:132706183-132706184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35018400	chr6:132706184-132706185	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182558498	chr6:132706205-132706206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371037298	chr6:132706239-132706240	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551466404	chr6:132706305-132706306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557946929	chr6:132706309-132706310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557700095	chr6:132706327-132706328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577615863	chr6:132706342-132706343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573181299	chr6:132706438-132706439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543468887	chr6:132706464-132706465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571664885	chr6:132706533-132706534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376088347	chr6:132706600-132706601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202068722	chr6:132706601-132706602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554359627	chr6:132706636-132706637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570860609	chr6:132706637-132706638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202213071	chr6:132706639-132706640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113279663	chr6:132706640-132706641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542883573	chr6:132706657-132706658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368550622	chr6:132706667-132706668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559982783	chr6:132706679-132706680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375862973	chr6:132706685-132706686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542374013	chr6:132706728-132706729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58101102	chr6:132706760-132706761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186470955	chr6:132706776-132706777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371372596	chr6:132706779-132706780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542347404	chr6:132706784-132706785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530703921	chr6:132706864-132706865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191343210	chr6:132706880-132706881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73547914	chr6:132706888-132706889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369692142	chr6:132706980-132706981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543841916	chr6:132706988-132706989	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:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
3	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
4	chr6:132694600-132705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:132701600-132709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:132702000-132709400	Weak transcription	Osteobl	bone
9	chr6:132704200-132712800	Weak transcription	HSMMtube	muscle
10	chr6:132705400-132706400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:132705400-132706400	Strong transcription	NHDF-Ad	bronchial
12	chr6:132705800-132706400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:132705800-132706400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:132706400-132707600	Weak transcription	NHDF-Ad	bronchial
15	chr6:132706400-132709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132706400-132709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:132706400-132709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:132706600-132711600	Weak transcription	Fetal Brain Male	brain
19	chr6:132707600-132707800	Strong transcription	NHDF-Ad	bronchial
20	chr6:132707800-132709000	Weak transcription	NHDF-Ad	bronchial
21	chr6:132707800-132711800	Weak transcription	NHLF	lung
22	chr6:132709000-132711800	Enhancers	NHDF-Ad	bronchial
23	chr6:132709000-132712800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:132709200-132709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:132709200-132709600	Enhancers	Fetal Kidney	kidney
26	chr6:132709200-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:132709200-132709800	Enhancers	NHEK	skin
28	chr6:132709200-132712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:132709200-132712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:132709400-132709600	Enhancers	Fetal Stomach	stomach
31	chr6:132709400-132709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:132709400-132709800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:132709400-132709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:132709400-132709800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:132709400-132709800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:132709400-132709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:132709400-132709800	Enhancers	HMEC	breast
38	chr6:132709400-132709800	Enhancers	HSMM	muscle
39	chr6:132709400-132709800	Enhancers	NH-A	brain
40	chr6:132709400-132710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:132709400-132710000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:132709400-132710200	Enhancers	Brain Germinal Matrix	brain
43	chr6:132709400-132710200	Enhancers	Osteobl	bone
44	chr6:132709400-132710600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:132709400-132712000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:132709400-132712800	Enhancers	Fetal Lung	lung
47	chr6:132709600-132709800	Enhancers	Fetal Brain Female	brain
48	chr6:132709600-132712800	Weak transcription	Fetal Kidney	kidney
49	chr6:132709800-132711800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:132709800-132712000	Weak transcription	HMEC	breast

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