Variant report

Variant	esv6654
Chromosome Location	chr12:60521772-60525236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368493126	chr12:60521782-60521783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570373426	chr12:60521785-60521786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186842088	chr12:60521821-60521822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201351546	chr12:60521847-60521848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199724180	chr12:60521848-60521849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151233819	chr12:60521875-60521876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192043990	chr12:60521946-60521947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140387406	chr12:60521983-60521984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535979811	chr12:60522013-60522014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370989882	chr12:60522040-60522041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551546130	chr12:60522081-60522082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79130053	chr12:60522107-60522108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538397697	chr12:60522125-60522126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183882069	chr12:60522152-60522153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571399560	chr12:60522174-60522175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146999183	chr12:60522297-60522298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138116037	chr12:60522325-60522326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536767694	chr12:60522428-60522429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185993006	chr12:60522437-60522438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190010969	chr12:60522505-60522506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541545887	chr12:60522524-60522525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12313647	chr12:60522525-60522526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182288111	chr12:60522534-60522535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1493313	chr12:60522671-60522672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75746966	chr12:60522693-60522694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11173332	chr12:60522725-60522726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187284016	chr12:60522746-60522747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191659188	chr12:60522760-60522761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560552008	chr12:60522768-60522769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73109764	chr12:60522800-60522801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74098523	chr12:60522806-60522807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74098525	chr12:60522836-60522837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374221770	chr12:60522867-60522868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538336333	chr12:60522912-60522913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552029432	chr12:60522957-60522958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183524419	chr12:60523091-60523092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114134052	chr12:60523110-60523111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188473221	chr12:60523155-60523156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572798413	chr12:60523277-60523278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145888594	chr12:60523296-60523297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554934054	chr12:60523316-60523317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193107520	chr12:60523348-60523349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543882340	chr12:60523371-60523372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185836102	chr12:60523423-60523424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4758852	chr12:60523439-60523440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4758853	chr12:60523462-60523463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4758854	chr12:60523480-60523481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112659781	chr12:60523484-60523485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73109768	chr12:60523499-60523500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562845498	chr12:60523512-60523513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Prostate cancer	18632612	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
Melanoma	20877625	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	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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