Variant report

Variant	esv3375844
Chromosome Location	chr3:42512241-42512677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552408896	chr3:42512252-42512253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4016303	chr3:42512256-42512257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200757704	chr3:42512267-42512268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59720537	chr3:42512269-42512270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs202069822	chr3:42512270-42512271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77006568	chr3:42512271-42512272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531806953	chr3:42512273-42512274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374231912	chr3:42512352-42512353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368817161	chr3:42512404-42512405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371909812	chr3:42512418-42512419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182415103	chr3:42512420-42512421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374871952	chr3:42512421-42512422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112616858	chr3:42512466-42512467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28833280	chr3:42512467-42512468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28837688	chr3:42512469-42512470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71615411	chr3:42512471-42512472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71615412	chr3:42512472-42512473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563507388	chr3:42512473-42512474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370195582	chr3:42512481-42512482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200349409	chr3:42512482-42512483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60610093	chr3:42512487-42512488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71072716	chr3:42512488-42512489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200818660	chr3:42512489-42512490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368354815	chr3:42512496-42512497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56709942	chr3:42512508-42512509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375805489	chr3:42512515-42512516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539882101	chr3:42512524-42512525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370301539	chr3:42512528-42512529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1091163	chr3:42512537-42512538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374124053	chr3:42512558-42512559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34512489	chr3:42512564-42512565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71072717	chr3:42512571-42512572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576361428	chr3:42512573-42512574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545104484	chr3:42512577-42512578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200654231	chr3:42512585-42512586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201430238	chr3:42512587-42512588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373337438	chr3:42512595-42512596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150052968	chr3:42512599-42512600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202246732	chr3:42512602-42512603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201010012	chr3:42512619-42512620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149982126	chr3:42512644-42512645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191373561	chr3:42512645-42512646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42510200-42514200	Weak transcription	Duodenum Mucosa	Duodenum

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