Variant report

Variant	esv3436497
Chromosome Location	chr12:59369760-59372383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542024841	chr12:59369772-59369773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11172850	chr12:59369807-59369808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576106950	chr12:59369817-59369818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530950864	chr12:59369823-59369824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11172851	chr12:59369834-59369835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576868497	chr12:59369838-59369839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139092068	chr12:59369891-59369892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34814891	chr12:59369908-59369909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149879377	chr12:59369987-59369988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546878942	chr12:59369988-59369989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568371688	chr12:59370123-59370124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144872294	chr12:59370186-59370187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140190418	chr12:59370201-59370202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568923405	chr12:59370219-59370220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539187409	chr12:59370221-59370222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375662789	chr12:59370343-59370344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572472534	chr12:59370362-59370363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71461393	chr12:59370366-59370367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564548993	chr12:59370374-59370375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533553866	chr12:59370385-59370386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190207921	chr12:59370390-59370391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146146782	chr12:59370391-59370392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528009444	chr12:59370392-59370393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58659702	chr12:59370421-59370422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61263406	chr12:59370422-59370423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376781441	chr12:59370426-59370427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370860042	chr12:59370487-59370488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201727260	chr12:59370527-59370528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368139666	chr12:59370528-59370529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143875282	chr12:59370568-59370569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146872582	chr12:59370571-59370572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543316719	chr12:59370579-59370580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563761764	chr12:59370580-59370581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373243860	chr12:59370603-59370604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112732770	chr12:59370619-59370620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs581143	chr12:59370626-59370627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561541807	chr12:59370665-59370666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376478791	chr12:59370666-59370667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545952356	chr12:59370689-59370690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564617771	chr12:59370693-59370694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111859457	chr12:59370695-59370696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528452838	chr12:59370700-59370701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547018410	chr12:59370704-59370705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111531944	chr12:59370706-59370707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531640470	chr12:59370708-59370709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561960458	chr12:59370709-59370710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529243918	chr12:59370713-59370714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550730975	chr12:59370717-59370718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568930661	chr12:59370721-59370722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539636952	chr12:59370722-59370723	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
Thoracic aortic aneurysm	21092924	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
low-grade B-cell lymphoma tumor	18367492	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59369600-59370200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:59369800-59370200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:59369800-59370200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:59370200-59373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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