Variant report

Variant	esv2260027
Chromosome Location	chr3:25172167-25172668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75401639	chr3:25172170-25172171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566450507	chr3:25172198-25172199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529954418	chr3:25172210-25172211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535111412	chr3:25172265-25172266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555428398	chr3:25172316-25172317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368827232	chr3:25172351-25172352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113444564	chr3:25172384-25172385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200719829	chr3:25172386-25172387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10646076	chr3:25172391-25172392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538021456	chr3:25172395-25172396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200747005	chr3:25172396-25172397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201525209	chr3:25172397-25172398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201016013	chr3:25172417-25172418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62230301	chr3:25172420-25172421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62230302	chr3:25172423-25172424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62230303	chr3:25172424-25172425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71057699	chr3:25172428-25172429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370519279	chr3:25172429-25172430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397988967	chr3:25172431-25172432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62230304	chr3:25172433-25172434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62230305	chr3:25172438-25172439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62230306	chr3:25172440-25172441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200596555	chr3:25172442-25172443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201311498	chr3:25172447-25172448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62230307	chr3:25172449-25172450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67461774	chr3:25172451-25172452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7635178	chr3:25172452-25172453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398062164	chr3:25172454-25172455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377620341	chr3:25172463-25172464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9310771	chr3:25172465-25172466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115450928	chr3:25172467-25172468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571813956	chr3:25172476-25172477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540107590	chr3:25172479-25172480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553653206	chr3:25172483-25172484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536394012	chr3:25172485-25172486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146330744	chr3:25172488-25172489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60024816	chr3:25172496-25172497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573937783	chr3:25172504-25172505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542697558	chr3:25172521-25172522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11129183	chr3:25172544-25172545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11129184	chr3:25172600-25172601	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193010900	chr3:25172630-25172631	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371540731	chr3:25172650-25172651	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25171800-25173600	Enhancers	Fetal Stomach	stomach
2	chr3:25172000-25172600	Enhancers	Fetal Lung	lung
3	chr3:25172600-25173000	Flanking Active TSS	Fetal Lung	lung

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