Variant report

Variant	esv12376
Chromosome Location	chr16:48549888-48554334
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	chr16:48543888..48545785-chr16:48548067..48550987,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540713255	chr16:48551204-48551205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184004740	chr16:48551218-48551219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577193727	chr16:48551240-48551241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141590790	chr16:48551278-48551279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563401481	chr16:48551279-48551280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529197955	chr16:48551300-48551301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189449456	chr16:48551346-48551347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568944475	chr16:48551418-48551419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539434682	chr16:48551423-48551424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557453977	chr16:48551474-48551475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181042636	chr16:48551504-48551505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551890744	chr16:48551521-48551522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573510221	chr16:48551537-48551538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116288000	chr16:48551615-48551616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550970921	chr16:48551626-48551627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185630814	chr16:48551637-48551638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536957995	chr16:48551661-48551662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534216050	chr16:48551670-48551671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190500248	chr16:48551684-48551685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115301927	chr16:48551689-48551690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533615207	chr16:48551707-48551708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147033075	chr16:48551740-48551741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9746789	chr16:48551755-48551756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181990009	chr16:48551770-48551771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370516927	chr16:48551793-48551794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531905930	chr16:48554210-48554211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114211779	chr16:48554225-48554226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9925138	chr16:48554249-48554250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs535970055	chr16:48554250-48554251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529607645	chr16:48554251-48554252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113352530	chr16:48554268-48554269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80178337	chr16:48554285-48554286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538675062	chr16:48554329-48554330	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48551200-48551800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:48554200-48555200	Enhancers	HepG2	liver

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