Variant report

Variant	esv3366039
Chromosome Location	chr6:161388612-161390660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161384126..161386705-chr6:161388829..161391030,2	K562	blood:
2	chr6:161381476..161384007-chr6:161387008..161389512,2	K562	blood:
3	chr6:161377508..161379938-chr6:161386154..161388991,2	MCF-7	breast:
4	chr6:161376616..161379029-chr6:161389895..161392402,2	K562	blood:
5	chr6:161388337..161390825-chr6:161398571..161400155,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182779779	chr6:161388634-161388635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545827711	chr6:161388651-161388652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187761951	chr6:161388674-161388675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551267936	chr6:161388708-161388709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565232416	chr6:161388718-161388719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530707772	chr6:161388726-161388727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559290333	chr6:161388807-161388808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545981597	chr6:161388811-161388812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550421541	chr6:161388818-161388819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192328100	chr6:161388842-161388843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377349393	chr6:161388847-161388848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145550407	chr6:161388861-161388862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370336931	chr6:161388954-161388955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9355323	chr6:161388978-161388979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184660627	chr6:161389025-161389026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566423333	chr6:161389029-161389030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114236082	chr6:161389126-161389127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148877456	chr6:161389127-161389128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557857082	chr6:161389137-161389138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143582371	chr6:161389138-161389139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574848424	chr6:161389186-161389187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187757853	chr6:161389210-161389211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555271600	chr6:161389232-161389233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574899756	chr6:161389233-161389234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540613139	chr6:161389292-161389293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192675728	chr6:161389317-161389318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs788136	chr6:161389356-161389357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577266049	chr6:161389368-161389369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554967211	chr6:161389461-161389462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577507575	chr6:161389484-161389485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373543531	chr6:161389485-161389486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59314152	chr6:161389486-161389487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9355858	chr6:161389489-161389490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9355859	chr6:161389490-161389491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552102175	chr6:161389534-161389535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184846858	chr6:161389570-161389571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140705936	chr6:161389597-161389598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144620322	chr6:161389639-161389640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529675641	chr6:161389647-161389648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138578671	chr6:161389720-161389721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566602656	chr6:161389781-161389782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9347473	chr6:161389847-161389848	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9365238	chr6:161389855-161389856	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141601864	chr6:161389887-161389888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538405873	chr6:161389927-161389928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12173735	chr6:161389938-161389939	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189742052	chr6:161389954-161389955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534248372	chr6:161389963-161389964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553873187	chr6:161389983-161389984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577130502	chr6:161389984-161389985	ZNF genes & repeats Weak transcription	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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161372800-161394000	Weak transcription	Right Atrium	heart
2	chr6:161382400-161389800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:161388600-161388800	Enhancers	Fetal Brain Female	brain
4	chr6:161388600-161389200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:161389200-161392600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:161389800-161390800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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