Variant report

Variant	esv3377795
Chromosome Location	chr6:146171490-146171691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146054622..146056898-chr6:146169724..146173183,3	MCF-7	breast:
2	chr6:146169854..146171844-chr6:146179005..146181941,2	K562	blood:
3	chr6:146161591..146163305-chr6:146169579..146172257,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270638	chromatin interactions
ENSG00000112425	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56280912	chr6:146171493-146171494	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs9390359	chr6:146171494-146171495	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564341170	chr6:146171499-146171500	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533189651	chr6:146171508-146171509	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540308269	chr6:146171510-146171511	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572775787	chr6:146171518-146171519	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375569543	chr6:146171523-146171524	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541827677	chr6:146171524-146171525	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529440210	chr6:146171548-146171549	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7745133	chr6:146171581-146171582	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12191375	chr6:146171587-146171588	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146150600-146174000	Weak transcription	Right Ventricle	heart
2	chr6:146163800-146175000	Weak transcription	Left Ventricle	heart
3	chr6:146170400-146172200	Enhancers	Adipose Nuclei	Adipose
4	chr6:146170600-146172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:146170800-146171800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:146171200-146171600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:146171200-146171600	Enhancers	Aorta	Aorta
8	chr6:146171200-146171600	Enhancers	Psoas Muscle	Psoas
9	chr6:146171200-146171800	Enhancers	HUVEC	blood vessel
10	chr6:146171200-146172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:146171200-146172000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:146171200-146172000	Enhancers	Osteobl	bone
13	chr6:146171200-146172400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:146171400-146171600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:146171400-146171600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr6:146171400-146171600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr6:146171400-146171600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:146171400-146171600	Enhancers	NH-A	brain
19	chr6:146171400-146172000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:146171600-146172000	Weak transcription	Primary T cells from cord blood	blood
21	chr6:146171600-146172800	Weak transcription	Psoas Muscle	Psoas

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