Variant report

Variant	esv2762605
Chromosome Location	chr6:87488081-87495504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:87494778..87497258-chr6:87499826..87502214,2	K562	blood:
2	chr6:87433571..87436009-chr6:87486240..87488175,2	MCF-7	breast:
3	chr6:87494199..87497258-chr6:87499220..87502214,3	K562	blood:
4	chr6:87432080..87434373-chr6:87487910..87490262,2	MCF-7	breast:
5	chr6:87491790..87492456-chr6:87566446..87567164,4	MCF-7	breast:
6	chr6:87433212..87433993-chr6:87487281..87488109,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558449690	chr6:87493831-87493832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573459582	chr6:87493834-87493835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540966109	chr6:87494136-87494137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561516956	chr6:87494139-87494140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573614805	chr6:87494161-87494162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114843012	chr6:87494319-87494320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78679991	chr6:87494361-87494362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189367088	chr6:87494378-87494379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376471964	chr6:87494408-87494409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533035773	chr6:87494517-87494518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139872045	chr6:87494525-87494526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551164240	chr6:87494528-87494529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559963973	chr6:87494529-87494530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527583996	chr6:87494561-87494562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549294912	chr6:87494663-87494664	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9351108	chr6:87494690-87494691	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs148352963	chr6:87494691-87494692	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551058120	chr6:87494760-87494761	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181415695	chr6:87494827-87494828	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117956394	chr6:87494837-87494838	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112781791	chr6:87494889-87494890	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147068244	chr6:87494912-87494913	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534209948	chr6:87495066-87495067	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367606376	chr6:87495082-87495083	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186361796	chr6:87495093-87495094	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138361906	chr6:87495109-87495110	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529060441	chr6:87495120-87495121	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543815640	chr6:87495124-87495125	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562197229	chr6:87495126-87495127	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548670251	chr6:87495359-87495360	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369772089	chr6:87495360-87495361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570919890	chr6:87495370-87495371	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374522879	chr6:87495371-87495372	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375145332	chr6:87495388-87495389	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527511315	chr6:87495444-87495445	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190582692	chr6:87495477-87495478	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87493800-87494600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87493800-87494800	Enhancers	Fetal Kidney	kidney
3	chr6:87494600-87494800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:87494600-87494800	Enhancers	Fetal Intestine Large	intestine
5	chr6:87494800-87495400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:87494800-87495600	Weak transcription	Fetal Kidney	kidney
7	chr6:87494800-87495800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:87495400-87496200	Enhancers	Fetal Intestine Large	intestine

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