Variant report

Variant	esv275229
Chromosome Location	chr6:134402896-134406409
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	chr6:134301899..134303994-chr6:134404772..134406412,2	K562	blood:
2	chr6:134395008..134397545-chr6:134401135..134403022,2	K562	blood:

Variant related genes	Relation type
ENSG00000028839	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186142567	chr6:134402926-134402927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571054108	chr6:134402930-134402931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386706077	chr6:134403025-134403026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62425858	chr6:134403027-134403028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142447509	chr6:134403030-134403031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573422585	chr6:134403043-134403044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535724284	chr6:134403044-134403045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556017599	chr6:134403053-134403054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111993911	chr6:134403054-134403055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151316548	chr6:134403078-134403079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9483650	chr6:134403116-134403117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62425859	chr6:134403121-134403122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs578079990	chr6:134403155-134403156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543916028	chr6:134403170-134403171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9493826	chr6:134403210-134403211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531529593	chr6:134403229-134403230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541697386	chr6:134403301-134403302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370224435	chr6:134403304-134403305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397888568	chr6:134403306-134403307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62426860	chr6:134403308-134403309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58148483	chr6:134403340-134403341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561929047	chr6:134403343-134403344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61606357	chr6:134403346-134403347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59030452	chr6:134403348-134403349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34100744	chr6:134403350-134403351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527563764	chr6:134403388-134403389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190995249	chr6:134403413-134403414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556628682	chr6:134403474-134403475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181773069	chr6:134403483-134403484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544860759	chr6:134403487-134403488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79530102	chr6:134403488-134403489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562924518	chr6:134403545-134403546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146455989	chr6:134403560-134403561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569693675	chr6:134403572-134403573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542458853	chr6:134403587-134403588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140892764	chr6:134403613-134403614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186937933	chr6:134403616-134403617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191398960	chr6:134403650-134403651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62423783	chr6:134403679-134403680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182773594	chr6:134403699-134403700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542079257	chr6:134403724-134403725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368198431	chr6:134403728-134403729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558520065	chr6:134403755-134403756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578055438	chr6:134403792-134403793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150152858	chr6:134403827-134403828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557415852	chr6:134403834-134403835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138576423	chr6:134403889-134403890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374733183	chr6:134403917-134403918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545041135	chr6:134403967-134403968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543130501	chr6:134403985-134403986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134395600-134405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:134398800-134404200	Enhancers	Placenta	Placenta
3	chr6:134400200-134404600	Enhancers	Primary B cells from cord blood	blood
4	chr6:134400200-134404600	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:134401800-134403200	Weak transcription	GM12878-XiMat	blood
6	chr6:134402800-134403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:134403200-134403800	Enhancers	GM12878-XiMat	blood
8	chr6:134404200-134405000	Weak transcription	Placenta	Placenta
9	chr6:134405000-134405200	Enhancers	Placenta	Placenta

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