Variant report

Variant	esv3403909
Chromosome Location	chr3:80031062-80032060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189869852	chr3:80031117-80031118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574670942	chr3:80031120-80031121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543572529	chr3:80031159-80031160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192780341	chr3:80031160-80031161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184869906	chr3:80031195-80031196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147180804	chr3:80031242-80031243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116687294	chr3:80031243-80031244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547598512	chr3:80031274-80031275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188263218	chr3:80031296-80031297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548455597	chr3:80031305-80031306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567845357	chr3:80031366-80031367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568342657	chr3:80031378-80031379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114545616	chr3:80031395-80031396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550813888	chr3:80031416-80031417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570886958	chr3:80031434-80031435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372407990	chr3:80031456-80031457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13086827	chr3:80031459-80031460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373779407	chr3:80031463-80031464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367620974	chr3:80031467-80031468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371108803	chr3:80031471-80031472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375409174	chr3:80031475-80031476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180777825	chr3:80031479-80031480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9833684	chr3:80031483-80031484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189222289	chr3:80031487-80031488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181933976	chr3:80031491-80031492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572880746	chr3:80031522-80031523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186579704	chr3:80031567-80031568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377167961	chr3:80031579-80031580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28715829	chr3:80031593-80031594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566743116	chr3:80031598-80031599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9833869	chr3:80031610-80031611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534952393	chr3:80031632-80031633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373615511	chr3:80031730-80031731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28504639	chr3:80031776-80031777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574708351	chr3:80031781-80031782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369387803	chr3:80031806-80031807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140517420	chr3:80031821-80031822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550849642	chr3:80031905-80031906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372734692	chr3:80031956-80031957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375743216	chr3:80031978-80031979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142869804	chr3:80031990-80031991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545571481	chr3:80031999-80032000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144483622	chr3:80032012-80032013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528053815	chr3:80032015-80032016	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80026800-80032200	Weak transcription	HUVEC	blood vessel

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