Variant report

Variant	esv3354043
Chromosome Location	chr3:84220317-84220479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149203649	chr3:84220320-84220321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185713010	chr3:84220323-84220324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547532612	chr3:84220325-84220326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143173777	chr3:84220338-84220339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199962951	chr3:84220343-84220344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200996395	chr3:84220346-84220347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372963318	chr3:84220350-84220351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191637962	chr3:84220354-84220355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62254580	chr3:84220357-84220358	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs28520065	chr3:84220359-84220360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62254581	chr3:84220361-84220362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62254582	chr3:84220365-84220366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28455168	chr3:84220370-84220371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555144452	chr3:84220371-84220372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62254583	chr3:84220373-84220374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551380172	chr3:84220374-84220375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62254584	chr3:84220377-84220378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576630116	chr3:84220379-84220380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569752562	chr3:84220385-84220386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537028236	chr3:84220386-84220387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552044386	chr3:84220391-84220392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138385797	chr3:84220394-84220395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149177528	chr3:84220397-84220398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544114067	chr3:84220399-84220400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182265707	chr3:84220404-84220405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143214044	chr3:84220406-84220407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538106664	chr3:84220415-84220416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578108293	chr3:84220426-84220427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141925645	chr3:84220434-84220435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539359483	chr3:84220442-84220443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557671147	chr3:84220458-84220459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200803117	chr3:84220474-84220475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576134074	chr3:84220475-84220476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532061810	chr3:84220478-84220479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84215200-84248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:84219200-84220400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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