Variant report

Variant	esv2763282
Chromosome Location	chr3:79860607-79885812
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	chr3:79853639..79855426-chr3:79859362..79861187,2	MCF-7	breast:
2	chr3:79861656..79863360-chr3:79921900..79923820,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511119	chr3:79860607-79860608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566014529	chr3:79860622-79860623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535022048	chr3:79860645-79860646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149955869	chr3:79860682-79860683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377562483	chr3:79860684-79860685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555260846	chr3:79860724-79860725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537176784	chr3:79860782-79860783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116092715	chr3:79860798-79860799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78290377	chr3:79885227-79885228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116428358	chr3:79885228-79885229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571702150	chr3:79885245-79885246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540655883	chr3:79885261-79885262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561613140	chr3:79885272-79885273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1910141	chr3:79885320-79885321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76992196	chr3:79885329-79885330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563685929	chr3:79885339-79885340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77501045	chr3:79885342-79885343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532764771	chr3:79885378-79885379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552694995	chr3:79885394-79885395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139115719	chr3:79885396-79885397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149388974	chr3:79885420-79885421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375880239	chr3:79885450-79885451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35760469	chr3:79885451-79885452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376385899	chr3:79885452-79885453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190467356	chr3:79885500-79885501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370881127	chr3:79885517-79885518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570457195	chr3:79885521-79885522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181791031	chr3:79885549-79885550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569504236	chr3:79885553-79885554	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79860000-79860800	Enhancers	HUVEC	blood vessel
2	chr3:79885200-79885600	Enhancers	Placenta	Placenta

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