Variant report

Variant	esv3389645
Chromosome Location	chr12:60530835-60533233
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	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539493592	chr12:60531011-60531012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11173336	chr12:60531030-60531031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs557911625	chr12:60531045-60531046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192732047	chr12:60531049-60531050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141893064	chr12:60531123-60531124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150633553	chr12:60531184-60531185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73368872	chr12:60531212-60531213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529802359	chr12:60531223-60531224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185046097	chr12:60531238-60531239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139700237	chr12:60531248-60531249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574418357	chr12:60531259-60531260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531813302	chr12:60531299-60531300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551736304	chr12:60531371-60531372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34345852	chr12:60531396-60531397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140728230	chr12:60531422-60531423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571805215	chr12:60531478-60531479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11173337	chr12:60531507-60531508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs189560691	chr12:60531522-60531523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182093667	chr12:60531523-60531524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535049601	chr12:60531577-60531578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538134874	chr12:60531621-60531622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554926226	chr12:60531649-60531650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563608736	chr12:60531665-60531666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568887940	chr12:60531682-60531683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144603412	chr12:60531689-60531690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537941948	chr12:60531705-60531706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542022222	chr12:60531706-60531707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147648966	chr12:60531719-60531720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577723894	chr12:60531724-60531725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540535547	chr12:60531734-60531735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554076981	chr12:60531741-60531742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554843786	chr12:60531745-60531746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574095822	chr12:60531840-60531841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566126198	chr12:60531850-60531851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549130494	chr12:60531853-60531854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528497627	chr12:60531880-60531881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548860581	chr12:60531892-60531893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574553792	chr12:60531911-60531912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7979735	chr12:60531918-60531919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531754390	chr12:60531948-60531949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140608950	chr12:60531980-60531981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79180547	chr12:60532001-60532002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112862118	chr12:60532018-60532019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569638216	chr12:60532034-60532035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561280976	chr12:60532114-60532115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs992478	chr12:60532121-60532122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs548749003	chr12:60532153-60532154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78896519	chr12:60532161-60532162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115857985	chr12:60532171-60532172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144455993	chr12:60532254-60532255	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60531000-60531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:60531200-60531800	Enhancers	A549	lung
3	chr12:60531200-60532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:60532000-60536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:60533200-60533400	Enhancers	Aorta	Aorta

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