Variant report

Variant	esv3463310
Chromosome Location	chr3:34264076-34265533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559121605	chr3:34264091-34264092	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532905828	chr3:34264105-34264106	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551047373	chr3:34264135-34264136	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138973171	chr3:34264145-34264146	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536672586	chr3:34264176-34264177	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191202888	chr3:34264199-34264200	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142000602	chr3:34264226-34264227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535275280	chr3:34264270-34264271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553647928	chr3:34264276-34264277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73827388	chr3:34264321-34264322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369790464	chr3:34264324-34264325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7630757	chr3:34264328-34264329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144736074	chr3:34264350-34264351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34120793	chr3:34264384-34264385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7630778	chr3:34264385-34264386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs573900504	chr3:34264399-34264400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541310315	chr3:34264449-34264450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567389073	chr3:34264475-34264476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559456751	chr3:34264514-34264515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559156817	chr3:34264516-34264517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7619405	chr3:34264526-34264527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551135517	chr3:34264551-34264552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148126542	chr3:34264576-34264577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546620914	chr3:34264585-34264586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530589484	chr3:34264590-34264591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548706741	chr3:34264617-34264618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567247946	chr3:34264624-34264625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183294323	chr3:34264693-34264694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201627198	chr3:34264726-34264727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141836037	chr3:34264767-34264768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7631143	chr3:34264823-34264824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs186536173	chr3:34264875-34264876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557554636	chr3:34264948-34264949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567989338	chr3:34264971-34264972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150624242	chr3:34265042-34265043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536703539	chr3:34265057-34265058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7619869	chr3:34265060-34265061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139744351	chr3:34265100-34265101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540954903	chr3:34265112-34265113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552871775	chr3:34265183-34265184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577483959	chr3:34265261-34265262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550174741	chr3:34265273-34265274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544816700	chr3:34265306-34265307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374184868	chr3:34265323-34265324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145308894	chr3:34265340-34265341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530565485	chr3:34265349-34265350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542697040	chr3:34265433-34265434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560753549	chr3:34265439-34265440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528065194	chr3:34265451-34265452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546591028	chr3:34265463-34265464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	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
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34261800-34264400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:34262200-34264200	Flanking Active TSS	HUVEC	blood vessel
3	chr3:34264200-34265000	Enhancers	HUVEC	blood vessel
4	chr3:34264400-34265000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:34265000-34266600	Weak transcription	HUVEC	blood vessel

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