Variant report

Variant	esv3359057
Chromosome Location	chr3:80044362-80048060
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	chr3:80047881..80050962-chr3:80053550..80056589,5	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568455857	chr3:80044379-80044380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531929749	chr3:80044432-80044433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78024740	chr3:80044492-80044493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184832369	chr3:80044540-80044541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189732118	chr3:80044541-80044542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180868149	chr3:80044562-80044563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558822410	chr3:80044615-80044616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548846349	chr3:80044672-80044673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554839636	chr3:80044715-80044716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72631239	chr3:80044717-80044718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554334973	chr3:80044757-80044758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574385046	chr3:80044764-80044765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75630012	chr3:80044801-80044802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562943817	chr3:80044811-80044812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561712475	chr3:80044820-80044821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577149008	chr3:80044829-80044830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6548667	chr3:80044835-80044836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559541296	chr3:80044848-80044849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185924585	chr3:80044875-80044876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542316692	chr3:80044881-80044882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6781474	chr3:80044883-80044884	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78857094	chr3:80044892-80044893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145897423	chr3:80044900-80044901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6548668	chr3:80044904-80044905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570843420	chr3:80044912-80044913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182034391	chr3:80044942-80044943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376828347	chr3:80044994-80044995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552473709	chr3:80045008-80045009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145421200	chr3:80045018-80045019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534479518	chr3:80045092-80045093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554654765	chr3:80045159-80045160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141943063	chr3:80045168-80045169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9875883	chr3:80045194-80045195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186180344	chr3:80045239-80045240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373376851	chr3:80045254-80045255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576400216	chr3:80045267-80045268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145807117	chr3:80045284-80045285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138722912	chr3:80045382-80045383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553209108	chr3:80045421-80045422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7640276	chr3:80045475-80045476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542104123	chr3:80045518-80045519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141183790	chr3:80045521-80045522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190640587	chr3:80045532-80045533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143503889	chr3:80045533-80045534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372536478	chr3:80045543-80045544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371064418	chr3:80045549-80045550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148025476	chr3:80045558-80045559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17017457	chr3:80045564-80045565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552510697	chr3:80045571-80045572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35205616	chr3:80045624-80045625	Weak transcription	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80035800-80046400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:80044800-80045200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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