Variant report

Variant	esv2762603
Chromosome Location	chr6:80706754-80708416
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	chr6:80654201..80657156-chr6:80707214..80709323,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183653275	chr6:80706807-80706808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557358565	chr6:80706816-80706817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35803267	chr6:80706918-80706919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60336899	chr6:80706960-80706961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543218603	chr6:80707027-80707028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537525647	chr6:80707058-80707059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560022356	chr6:80707088-80707089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548328645	chr6:80707095-80707096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557553930	chr6:80707096-80707097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575708753	chr6:80707165-80707166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545143197	chr6:80707181-80707182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565383303	chr6:80707187-80707188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530772195	chr6:80707193-80707194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144962636	chr6:80707219-80707220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569611360	chr6:80707229-80707230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371540402	chr6:80707294-80707295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74485154	chr6:80707296-80707297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115468526	chr6:80707350-80707351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534532121	chr6:80707352-80707353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557525659	chr6:80707365-80707366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568323531	chr6:80707367-80707368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149187418	chr6:80707448-80707449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536954319	chr6:80707462-80707463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536636811	chr6:80707531-80707532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs239498	chr6:80707570-80707571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574372403	chr6:80707590-80707591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543308444	chr6:80707617-80707618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573566796	chr6:80707630-80707631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553723704	chr6:80707642-80707643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573427594	chr6:80707654-80707655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540663437	chr6:80707656-80707657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73474082	chr6:80707685-80707686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565226624	chr6:80707723-80707724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189108839	chr6:80707754-80707755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80081441	chr6:80707783-80707784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544348660	chr6:80707788-80707789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560984832	chr6:80707831-80707832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530055039	chr6:80707848-80707849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs239497	chr6:80707866-80707867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs559226854	chr6:80707879-80707880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370065338	chr6:80707892-80707893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529805847	chr6:80707914-80707915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117452908	chr6:80707929-80707930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548364356	chr6:80707966-80707967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571230849	chr6:80708011-80708012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537181155	chr6:80708012-80708013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72902735	chr6:80708028-80708029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527566643	chr6:80708033-80708034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181009638	chr6:80708121-80708122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570664664	chr6:80708130-80708131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80703800-80713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:80704200-80712600	Weak transcription	Fetal Thymus	thymus
3	chr6:80705000-80712600	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links