Variant report

Variant	esv3362657
Chromosome Location	chr12:60992285-60995883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185375238	chr12:60992287-60992288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73129055	chr12:60992292-60992293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189738560	chr12:60992296-60992297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576162716	chr12:60992367-60992368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12810354	chr12:60992398-60992399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564868727	chr12:60992516-60992517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10506414	chr12:60992518-60992519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12811653	chr12:60992538-60992539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2363475	chr12:60992571-60992572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145310333	chr12:60992621-60992622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568435423	chr12:60992624-60992625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530051247	chr12:60992674-60992675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375761961	chr12:60992709-60992710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77235007	chr12:60992725-60992726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373330212	chr12:60992744-60992745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116965134	chr12:60992815-60992816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34635395	chr12:60992873-60992874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148511673	chr12:60992874-60992875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78194700	chr12:60992886-60992887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566033685	chr12:60992891-60992892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77591841	chr12:60992896-60992897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201173097	chr12:60992957-60992958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539607511	chr12:60993042-60993043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553133255	chr12:60993064-60993065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142848745	chr12:60993093-60993094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565463380	chr12:60993104-60993105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534408882	chr12:60993135-60993136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182188402	chr12:60993137-60993138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151063757	chr12:60993147-60993148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373154102	chr12:60993150-60993151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574333252	chr12:60993154-60993155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374844672	chr12:60993184-60993185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558353451	chr12:60993209-60993210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572133262	chr12:60993219-60993220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540666848	chr12:60993223-60993224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369289859	chr12:60993264-60993265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186495614	chr12:60993293-60993294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543317481	chr12:60993295-60993296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563117768	chr12:60993324-60993325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532193068	chr12:60993378-60993379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541921115	chr12:60993384-60993385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577047978	chr12:60993406-60993407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12816639	chr12:60993472-60993473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191380155	chr12:60993504-60993505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546048504	chr12:60993524-60993525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141014770	chr12:60993544-60993545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116305230	chr12:60993554-60993555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183620982	chr12:60993577-60993578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372432642	chr12:60993627-60993628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188469083	chr12:60993634-60993635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60988800-60994800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:60994800-60995200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links