Variant report

Variant	esv274984
Chromosome Location	chr6:147405612-147408968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147408861..147411040-chr6:147429825..147431994,2	MCF-7	breast:
2	chr6:147203984..147206135-chr6:147407183..147409245,2	K562	blood:
3	chr6:147402891..147404620-chr6:147406849..147408959,2	K562	blood:
4	chr6:147385371..147387733-chr6:147404798..147406908,2	K562	blood:
5	chr6:147403737..147405712-chr6:147415493..147417404,3	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370075396	chr6:147405628-147405629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185954757	chr6:147405670-147405671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529074957	chr6:147405677-147405678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150798529	chr6:147405678-147405679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139622252	chr6:147405709-147405710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552606921	chr6:147405717-147405718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369071192	chr6:147405733-147405734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112994639	chr6:147405796-147405797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373524423	chr6:147405797-147405798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557819620	chr6:147405829-147405830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13195211	chr6:147405831-147405832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190368366	chr6:147405880-147405881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147161099	chr6:147405893-147405894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541785730	chr6:147405938-147405939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182660138	chr6:147405939-147405940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373940865	chr6:147405960-147405961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573931097	chr6:147405975-147405976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559853318	chr6:147405978-147405979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542780760	chr6:147405984-147405985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555067586	chr6:147406046-147406047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140437087	chr6:147406126-147406127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544206001	chr6:147406166-147406167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13195644	chr6:147406193-147406194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13195645	chr6:147406195-147406196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13195653	chr6:147406202-147406203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570434158	chr6:147406207-147406208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577561721	chr6:147406208-147406209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375516472	chr6:147406251-147406252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34233517	chr6:147406271-147406272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540183571	chr6:147406303-147406304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117442854	chr6:147406341-147406342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9386178	chr6:147406342-147406343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549170509	chr6:147406349-147406350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187901417	chr6:147406351-147406352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144323708	chr6:147406389-147406390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551850283	chr6:147406404-147406405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571579733	chr6:147406438-147406439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377576001	chr6:147406454-147406455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117763729	chr6:147406479-147406480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34096878	chr6:147406500-147406501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201064823	chr6:147406501-147406502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397710160	chr6:147406511-147406512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573303860	chr6:147406512-147406513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191227869	chr6:147406514-147406515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182546785	chr6:147406525-147406526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371141017	chr6:147406600-147406601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536452589	chr6:147406624-147406625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187678383	chr6:147406668-147406669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576218035	chr6:147406798-147406799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377227333	chr6:147406829-147406830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	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
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147402600-147412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:147403200-147408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:147403800-147410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:147408400-147408800	Enhancers	Brain Anterior Caudate	brain
5	chr6:147408400-147409400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:147408400-147410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links