Variant report

Variant	esv3447486
Chromosome Location	chr3:79576505-79577843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 75 )

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	rs566264367	chr3:79576535-79576536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560470823	chr3:79576586-79576587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528832898	chr3:79576592-79576593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548894673	chr3:79576635-79576636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201504985	chr3:79576678-79576679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140339985	chr3:79576727-79576728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375256291	chr3:79576804-79576805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188311228	chr3:79576829-79576830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537459720	chr3:79576858-79576859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79769793	chr3:79576890-79576891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78042070	chr3:79576901-79576902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539525472	chr3:79576945-79576946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370773553	chr3:79576976-79576977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372978820	chr3:79576977-79576978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375911785	chr3:79576978-79576979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370259502	chr3:79576979-79576980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558363218	chr3:79577070-79577071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571908380	chr3:79577072-79577073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4314135	chr3:79577089-79577090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540780873	chr3:79577123-79577124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554453683	chr3:79577143-79577144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145486206	chr3:79577161-79577162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543430853	chr3:79577218-79577219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374090751	chr3:79577230-79577231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532270331	chr3:79577242-79577243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562732993	chr3:79577262-79577263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545903246	chr3:79577269-79577270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149103336	chr3:79577287-79577288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571160821	chr3:79577508-79577509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143197840	chr3:79577536-79577537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376201477	chr3:79577544-79577545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9871445	chr3:79577616-79577617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568750731	chr3:79577629-79577630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115196940	chr3:79577652-79577653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192547122	chr3:79577663-79577664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570739663	chr3:79577677-79577678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539971100	chr3:79577690-79577691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573036861	chr3:79577712-79577713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183272086	chr3:79577736-79577737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115782219	chr3:79577742-79577743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187752869	chr3:79577782-79577783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77706992	chr3:79577812-79577813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574706992	chr3:79577825-79577826	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79574000-79577400	Weak transcription	Fetal Lung	lung
2	chr3:79577400-79578000	Enhancers	Fetal Lung	lung

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