Variant report

Variant	esv3333693
Chromosome Location	chr3:85264362-85268360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189023051	chr3:85264368-85264369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569885352	chr3:85264385-85264386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150364497	chr3:85264424-85264425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549805886	chr3:85264425-85264426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571736166	chr3:85264444-85264445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544084335	chr3:85264451-85264452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2167604	chr3:85264467-85264468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535421373	chr3:85264470-85264471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79522963	chr3:85264471-85264472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572348558	chr3:85264477-85264478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181293515	chr3:85264484-85264485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377335987	chr3:85264503-85264504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367894364	chr3:85264508-85264509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374402959	chr3:85264533-85264534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557998171	chr3:85264536-85264537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113847046	chr3:85264544-85264545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368332553	chr3:85264546-85264547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111827975	chr3:85264583-85264584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574092293	chr3:85264585-85264586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540181033	chr3:85264586-85264587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572617965	chr3:85264615-85264616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528006680	chr3:85264660-85264661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543553687	chr3:85264680-85264681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562169798	chr3:85264697-85264698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184061180	chr3:85264703-85264704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188606572	chr3:85264712-85264713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559656940	chr3:85264718-85264719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146006051	chr3:85264721-85264722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72913058	chr3:85264787-85264788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139599175	chr3:85264879-85264880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531094901	chr3:85264898-85264899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565459781	chr3:85264946-85264947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549651584	chr3:85264991-85264992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11127883	chr3:85265011-85265012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551289545	chr3:85265017-85265018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567910299	chr3:85265036-85265037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72913062	chr3:85265041-85265042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565644685	chr3:85265055-85265056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142888973	chr3:85265060-85265061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558035497	chr3:85265083-85265084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34916569	chr3:85265130-85265131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569872941	chr3:85265146-85265147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530049339	chr3:85265160-85265161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181682801	chr3:85265167-85265168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561939401	chr3:85265174-85265175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546936393	chr3:85265197-85265198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146057524	chr3:85265253-85265254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114233926	chr3:85265365-85265366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548082955	chr3:85265430-85265431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368037540	chr3:85265447-85265448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
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
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85263400-85265800	Weak transcription	Brain Angular Gyrus	brain

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