Variant report

Variant	esv3437965
Chromosome Location	chr3:83894112-83895510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116060291	chr3:83894130-83894131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567341597	chr3:83894147-83894148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5850624	chr3:83894197-83894198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397802965	chr3:83894206-83894207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181871043	chr3:83894217-83894218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187393474	chr3:83894280-83894281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571222311	chr3:83894291-83894292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565038975	chr3:83894353-83894354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201697862	chr3:83894354-83894355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538620047	chr3:83894360-83894361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557080070	chr3:83894365-83894366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147479467	chr3:83894367-83894368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10544616	chr3:83894368-83894369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4129643	chr3:83894369-83894370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369008647	chr3:83894371-83894372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555091030	chr3:83894373-83894374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573452088	chr3:83894375-83894376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540865351	chr3:83894416-83894417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565545989	chr3:83894417-83894418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370217309	chr3:83894422-83894423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576281861	chr3:83894425-83894426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544944838	chr3:83894435-83894436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563147556	chr3:83894461-83894462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530569156	chr3:83894465-83894466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548804004	chr3:83894467-83894468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532024026	chr3:83894476-83894477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561067742	chr3:83894479-83894480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138548342	chr3:83894482-83894483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546410532	chr3:83894495-83894496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571161610	chr3:83894513-83894514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143956550	chr3:83894517-83894518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111210985	chr3:83894532-83894533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569152556	chr3:83894548-83894549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536675907	chr3:83894594-83894595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139910481	chr3:83894597-83894598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374815981	chr3:83894599-83894600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369068881	chr3:83894639-83894640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372815681	chr3:83894644-83894645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373512272	chr3:83894647-83894648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377519825	chr3:83894649-83894650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200476297	chr3:83894653-83894654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561392124	chr3:83894676-83894677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573392971	chr3:83894688-83894689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114236033	chr3:83894690-83894691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190685024	chr3:83894730-83894731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180685706	chr3:83894731-83894732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13068558	chr3:83894736-83894737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13091432	chr3:83894737-83894738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544569898	chr3:83894752-83894753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563243992	chr3:83894767-83894768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83883800-83897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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