Variant report

Variant	esv3391753
Chromosome Location	chr3:80354811-80392169
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	chr3:80349220..80349873-chr3:80357584..80358397,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147824411	chr3:80356026-80356027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540429823	chr3:80356030-80356031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563317583	chr3:80356044-80356045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112431024	chr3:80356058-80356059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551640087	chr3:80356092-80356093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112788081	chr3:80356108-80356109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191517182	chr3:80356124-80356125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141381205	chr3:80356148-80356149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13086991	chr3:80356159-80356160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567375610	chr3:80356161-80356162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543859993	chr3:80356282-80356283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575126384	chr3:80356315-80356316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184410005	chr3:80356336-80356337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556216759	chr3:80356349-80356350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569610835	chr3:80356371-80356372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34369503	chr3:80356377-80356378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538996280	chr3:80356382-80356383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189343459	chr3:80356442-80356443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs180781321	chr3:80356455-80356456	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113018069	chr3:80356495-80356496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541236048	chr3:80356530-80356531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554709200	chr3:80356544-80356545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574615269	chr3:80356561-80356562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28590108	chr3:80356595-80356596	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557339292	chr3:80356602-80356603	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563570054	chr3:80356618-80356619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs575519245	chr3:80356625-80356626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72503594	chr3:80356628-80356629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560470499	chr3:80356633-80356634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532321562	chr3:80356703-80356704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185817789	chr3:80356716-80356717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145224890	chr3:80356722-80356723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372195404	chr3:80356729-80356730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370856954	chr3:80356755-80356756	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116675258	chr3:80356781-80356782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369197462	chr3:80356807-80356808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9990389	chr3:80356812-80356813	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147650247	chr3:80356822-80356823	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376103868	chr3:80356903-80356904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs77096765	chr3:80356904-80356905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116328082	chr3:80356911-80356912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113980716	chr3:80356920-80356921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs386662850	chr3:80357003-80357004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558228491	chr3:80357026-80357027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs140449727	chr3:80357029-80357030	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs367673273	chr3:80357031-80357032	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566379441	chr3:80357062-80357063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534959492	chr3:80357095-80357096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12490562	chr3:80357222-80357223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs386662851	chr3:80357229-80357230	Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80356000-80356400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:80356400-80357200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:80356800-80357200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr3:80357200-80357600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:80357200-80357800	Enhancers	Placenta	Placenta
6	chr3:80358600-80360000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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