Variant report

Variant	esv3404139
Chromosome Location	chr3:22580548-22585046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 289 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193170663	chr3:22580572-22580573	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571335574	chr3:22580579-22580580	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538837775	chr3:22580587-22580588	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547571214	chr3:22580607-22580608	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565873947	chr3:22580689-22580690	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17379077	chr3:22580696-22580697	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555505212	chr3:22580709-22580710	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112036232	chr3:22580718-22580719	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35669274	chr3:22580727-22580728	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183319296	chr3:22580780-22580781	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62253403	chr3:22580784-22580785	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1449896	chr3:22580785-22580786	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577669731	chr3:22580805-22580806	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545206033	chr3:22580808-22580809	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560728826	chr3:22580828-22580829	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572699540	chr3:22580840-22580841	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543287424	chr3:22580894-22580895	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs560757786	chr3:22580900-22580901	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201968641	chr3:22580937-22580938	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376899237	chr3:22580952-22580953	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1449895	chr3:22580956-22580957	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114210911	chr3:22580970-22580971	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs367845914	chr3:22580977-22580978	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11129075	chr3:22581004-22581005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377291306	chr3:22581028-22581029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529921872	chr3:22581039-22581040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549405669	chr3:22581059-22581060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151165967	chr3:22581092-22581093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563290261	chr3:22581098-22581099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9854314	chr3:22581102-22581103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189066234	chr3:22581128-22581129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532118891	chr3:22581158-22581159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531970217	chr3:22581161-22581162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67573843	chr3:22581177-22581178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9874439	chr3:22581221-22581222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535264562	chr3:22581237-22581238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548479397	chr3:22581293-22581294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569823597	chr3:22581316-22581317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193018905	chr3:22581350-22581351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556099322	chr3:22581376-22581377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12638304	chr3:22581381-22581382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34955060	chr3:22581388-22581389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397942092	chr3:22581397-22581398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368739312	chr3:22581432-22581433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544417963	chr3:22581455-22581456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537739916	chr3:22581477-22581478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140240884	chr3:22581504-22581505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372038912	chr3:22581505-22581506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12630192	chr3:22581523-22581524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572587662	chr3:22581525-22581526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22579800-22581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:22580400-22581000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:22581000-22584800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:22584800-22585200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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