Variant report

Variant	esv3509550
Chromosome Location	chr12:56001135-56005383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:56001164-56001236	HepG2	liver:	n/a	chr12:56001169-56001180
2	CEBPB	chr12:56001069-56001240	A549	lung:	n/a	chr12:56001169-56001180
3	CTCF	chr12:56003640-56003703	GM13977	blood:	n/a	n/a
4	EBF1	chr12:56004457-56004700	GM12878	blood:	n/a	n/a
5	EBF1	chr12:56002266-56002267	GM12878	blood:	n/a	n/a
6	EP300	chr12:56001280-56001592	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:56001303-56001703	HepG2	liver:	n/a	n/a
8	RUNX3	chr12:56002019-56002332	GM12878	blood:	n/a	n/a
9	RUNX3	chr12:56002050-56002330	GM12878	blood:	n/a	n/a
10	SPI1	chr12:56001672-56001923	GM12891	blood:	n/a	chr12:56001790-56001803
11	SPI1	chr12:56001695-56001928	HL-60	blood:	n/a	chr12:56001790-56001803
12	SPI1	chr12:56001698-56001858	K562	blood:	n/a	chr12:56001790-56001803
13	SPI1	chr12:56001545-56002021	HL-60	blood:	n/a	chr12:56001790-56001803

Variant related genes	Relation type
OR6U2P	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561632992	chr12:56001138-56001139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4759173	chr12:56001186-56001187	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs186888229	chr12:56001247-56001248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372832531	chr12:56001254-56001255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568871290	chr12:56001268-56001269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565189618	chr12:56001269-56001270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532937949	chr12:56001288-56001289	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148113122	chr12:56001293-56001294	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567133611	chr12:56001316-56001317	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10747758	chr12:56001327-56001328	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142883109	chr12:56001341-56001342	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146055572	chr12:56001363-56001364	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538376541	chr12:56001367-56001368	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374914869	chr12:56001447-56001448	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556366462	chr12:56001499-56001500	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541461391	chr12:56001510-56001511	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138821917	chr12:56001522-56001523	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191430714	chr12:56001533-56001534	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs117018767	chr12:56001627-56001628	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs367990209	chr12:56001637-56001638	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540155339	chr12:56001640-56001641	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561960959	chr12:56001645-56001646	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571756346	chr12:56001705-56001706	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529065261	chr12:56001803-56001804	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544324538	chr12:56001808-56001809	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562418370	chr12:56001883-56001884	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532970418	chr12:56002049-56002050	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551353102	chr12:56002061-56002062	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369106652	chr12:56002086-56002087	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs34425681	chr12:56002125-56002126	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560031114	chr12:56002136-56002137	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567171840	chr12:56002225-56002226	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs528040673	chr12:56002229-56002230	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372684493	chr12:56002232-56002233	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73327966	chr12:56002233-56002234	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530196449	chr12:56002253-56002254	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201209895	chr12:56002280-56002281	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs75763754	chr12:56002303-56002304	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567883591	chr12:56002335-56002336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538034257	chr12:56002342-56002343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142639901	chr12:56002491-56002492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575910930	chr12:56002520-56002521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71459306	chr12:56002595-56002596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6581073	chr12:56002614-56002615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538650115	chr12:56002629-56002630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553796006	chr12:56002659-56002660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551957447	chr12:56002698-56002699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112731462	chr12:56002730-56002731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555349595	chr12:56002737-56002738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150590463	chr12:56002746-56002747	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Seminomas	18059402	CNVD
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
Hirschsprung''s Disease	21712996	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56001000-56001600	Enhancers	Liver	Liver
2	chr12:56001000-56001800	Enhancers	HepG2	liver
3	chr12:56001200-56003000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:56001400-56002200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:56001800-56002400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:56001800-56002800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:56001800-56002800	Enhancers	HMEC	breast
8	chr12:56002000-56002400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:56002000-56002400	Enhancers	NHEK	skin

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