Variant report

Variant	esv2448290
Chromosome Location	chr6:86143713-86145103
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	chr6:86131859..86134118-chr6:86142494..86144247,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149215372	chr6:86143753-86143754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115418132	chr6:86143806-86143807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372596420	chr6:86143862-86143863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143365736	chr6:86143868-86143869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530563611	chr6:86143887-86143888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544380769	chr6:86143899-86143900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562743537	chr6:86143901-86143902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533249402	chr6:86143902-86143903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551728748	chr6:86143974-86143975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566448629	chr6:86144057-86144058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527297763	chr6:86144073-86144074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113566428	chr6:86144078-86144079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567252331	chr6:86144102-86144103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140515168	chr6:86144210-86144211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182402068	chr6:86144246-86144247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571539177	chr6:86144259-86144260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538922850	chr6:86144281-86144282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113943865	chr6:86144311-86144312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572070209	chr6:86144313-86144314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542661141	chr6:86144315-86144316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111842722	chr6:86144316-86144317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190419006	chr6:86144331-86144332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183037613	chr6:86144354-86144355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533185515	chr6:86144359-86144360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545288081	chr6:86144379-86144380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560467731	chr6:86144384-86144385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6903402	chr6:86144420-86144421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548698916	chr6:86144438-86144439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12181117	chr6:86144450-86144451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188679791	chr6:86144457-86144458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531289039	chr6:86144459-86144460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549873483	chr6:86144465-86144466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370589288	chr6:86144483-86144484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6903860	chr6:86144521-86144522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529912303	chr6:86144552-86144553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538858596	chr6:86144582-86144583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546874456	chr6:86144590-86144591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6903727	chr6:86144594-86144595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566032890	chr6:86144598-86144599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59357264	chr6:86144630-86144631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6904177	chr6:86144631-86144632	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs199505257	chr6:86144633-86144634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71570760	chr6:86144635-86144636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9450274	chr6:86144690-86144691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs574495024	chr6:86144701-86144702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147306687	chr6:86144718-86144719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12204524	chr6:86144743-86144744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537981692	chr6:86144755-86144756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555066626	chr6:86144800-86144801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193023924	chr6:86144810-86144811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86129800-86157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:86132400-86145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:86139600-86145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:86139600-86145200	Weak transcription	NHDF-Ad	bronchial
5	chr6:86141400-86145600	Weak transcription	HepG2	liver
6	chr6:86141800-86145000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:86145000-86145200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:86145000-86145200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:86145000-86145200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:86145000-86145200	Enhancers	Osteobl	bone
11	chr6:86145000-86145600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:86145000-86145800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:86145000-86145800	Enhancers	HUVEC	blood vessel

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