Variant report

Variant	esv3433378
Chromosome Location	chr12:58051277-58060854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58055005..58057718-chr12:58138111..58140068,2	K562	blood:

Variant related genes	Relation type
ENSG00000135452	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537472460	chr12:58051307-58051308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559016886	chr12:58051321-58051322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577277562	chr12:58051358-58051359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535017587	chr12:58051365-58051366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375798720	chr12:58051425-58051426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113349826	chr12:58051476-58051477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192166371	chr12:58051487-58051488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200026644	chr12:58051507-58051508	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574980392	chr12:58051533-58051534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145756599	chr12:58051546-58051547	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111597943	chr12:58051554-58051555	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184486328	chr12:58051590-58051591	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555925000	chr12:58051604-58051605	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113451337	chr12:58051615-58051616	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79682009	chr12:58051677-58051678	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115467228	chr12:58051678-58051679	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546579291	chr12:58051793-58051794	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562009755	chr12:58051824-58051825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189438572	chr12:58051845-58051846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181244784	chr12:58051858-58051859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143711114	chr12:58051873-58051874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537560317	chr12:58051878-58051879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1689597	chr12:58051886-58051887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs184889340	chr12:58051891-58051892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189063321	chr12:58051955-58051956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181735946	chr12:58051980-58051981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1678527	chr12:58052048-58052049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs535698543	chr12:58052088-58052089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557154393	chr12:58052128-58052129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113831886	chr12:58052145-58052146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186314127	chr12:58052155-58052156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563789020	chr12:58052162-58052163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543518280	chr12:58052166-58052167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191054426	chr12:58052191-58052192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180770620	chr12:58052193-58052194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561864600	chr12:58052220-58052221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186139577	chr12:58052221-58052222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35695063	chr12:58052223-58052224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190909703	chr12:58052228-58052229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562683546	chr12:58052236-58052237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147004340	chr12:58052253-58052254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138227442	chr12:58052267-58052268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373467756	chr12:58052290-58052291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1678528	chr12:58052294-58052295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs559581151	chr12:58052313-58052314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528511276	chr12:58052319-58052320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1678529	chr12:58052361-58052362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs138590150	chr12:58052449-58052450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183172402	chr12:58052465-58052466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557191052	chr12:58052471-58052472	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Adenoid cystic carcinoma	18698036	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
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	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
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58051000-58051400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:58051000-58051800	Enhancers	Brain Substantia Nigra	brain
3	chr12:58051200-58051600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:58051200-58052200	Enhancers	Liver	Liver
5	chr12:58051400-58051800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr12:58051800-58052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:58052200-58054200	Enhancers	K562	blood
8	chr12:58054200-58055200	Weak transcription	K562	blood
9	chr12:58055200-58055600	Enhancers	K562	blood
10	chr12:58055600-58060400	Weak transcription	K562	blood
11	chr12:58060400-58061200	Enhancers	K562	blood

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