Variant report

Variant	esv3409124
Chromosome Location	chr3:80060612-80066310
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	chr3:80065925..80067779-chr3:80730870..80732420,2	MCF-7	breast:

Extended variants
information (count: 216 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143243162	chr3:80060621-80060622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147532437	chr3:80060670-80060671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567078887	chr3:80060683-80060684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536094862	chr3:80060789-80060790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373438832	chr3:80060824-80060825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549594854	chr3:80060836-80060837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139432039	chr3:80060847-80060848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4569599	chr3:80060876-80060877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550253696	chr3:80060914-80060915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558145383	chr3:80061011-80061012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577927831	chr3:80061015-80061016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539350223	chr3:80061022-80061023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199705396	chr3:80061028-80061029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369734915	chr3:80061034-80061035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552892005	chr3:80061037-80061038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572799660	chr3:80061040-80061041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374085654	chr3:80061075-80061076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570255171	chr3:80061148-80061149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115342038	chr3:80061149-80061150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367771353	chr3:80061155-80061156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538610469	chr3:80061169-80061170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72631240	chr3:80061198-80061199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370694506	chr3:80061210-80061211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72631241	chr3:80061227-80061228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187521322	chr3:80061233-80061234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565157613	chr3:80061288-80061289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546607551	chr3:80061314-80061315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560810906	chr3:80061336-80061337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529587139	chr3:80061337-80061338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552217798	chr3:80061348-80061349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569318245	chr3:80061355-80061356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530862992	chr3:80061403-80061404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538358268	chr3:80061406-80061407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551537363	chr3:80061410-80061411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571623814	chr3:80061460-80061461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144871361	chr3:80061472-80061473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544536226	chr3:80061481-80061482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553728853	chr3:80061484-80061485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28599730	chr3:80061504-80061505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs80183352	chr3:80061519-80061520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565766814	chr3:80061528-80061529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561037821	chr3:80061530-80061531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529905814	chr3:80061576-80061577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374741006	chr3:80061579-80061580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368837536	chr3:80061617-80061618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555562483	chr3:80061700-80061701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575302013	chr3:80061701-80061702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377235070	chr3:80061717-80061718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72897309	chr3:80061751-80061752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190401477	chr3:80061752-80061753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80055200-80066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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