Variant report

Variant	esv3349917
Chromosome Location	chr3:82344462-82349160
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	chr3:82338513..82340160-chr3:82342810..82345015,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528234034	chr3:82344507-82344508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs367790703	chr3:82344511-82344512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200278493	chr3:82344514-82344515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9814230	chr3:82344515-82344516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs71630145	chr3:82344517-82344518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79563712	chr3:82344519-82344520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58631729	chr3:82344534-82344535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34629783	chr3:82344579-82344580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144554835	chr3:82344622-82344623	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568361200	chr3:82344623-82344624	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368519513	chr3:82344638-82344639	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186736370	chr3:82344644-82344645	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138008009	chr3:82344645-82344646	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191984524	chr3:82344670-82344671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183309508	chr3:82344671-82344672	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552756063	chr3:82344673-82344674	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552538111	chr3:82344724-82344725	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543170289	chr3:82344730-82344731	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559705212	chr3:82344787-82344788	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73146013	chr3:82344805-82344806	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75322730	chr3:82344806-82344807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545375680	chr3:82344873-82344874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565620330	chr3:82344920-82344921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142689989	chr3:82344926-82344927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186477072	chr3:82344996-82344997	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82344000-82344800	Enhancers	Ovary	ovary
2	chr3:82344600-82345000	Active TSS	Skeletal Muscle Female	skeletal muscle

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