Variant report

Variant	esv9827
Chromosome Location	chr12:56270232-56271795
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	CBX3	chr12:56271594-56272011	K562	blood:	n/a	n/a
2	CBX3	chr12:56271609-56272019	K562	blood:	n/a	n/a
3	CTCF	chr12:56270738-56270787	LNCaP	prostate:	n/a	n/a
4	IRF1	chr12:56271562-56271574	K562	blood:	n/a	n/a
5	KAP1	chr12:56271417-56271890	HEK293	kidney:	n/a	n/a
6	KAP1	chr12:56271441-56272144	K562	blood:	n/a	n/a
7	KAP1	chr12:56271499-56271887	U2OS	brain:	n/a	n/a
8	SETDB1	chr12:56271218-56272140	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56251018..56252886-chr12:56269364..56271809,2	MCF-7	breast:

Variant related genes	Relation type
OLA1P3	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565621122	chr12:56270235-56270236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534638082	chr12:56270256-56270257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545138443	chr12:56270278-56270279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560632889	chr12:56270297-56270298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572380086	chr12:56270450-56270451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80038521	chr12:56270454-56270455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138072266	chr12:56270568-56270569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529229159	chr12:56270583-56270584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544469100	chr12:56270588-56270589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60613326	chr12:56270597-56270598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562679672	chr12:56270612-56270613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111596583	chr12:56270626-56270627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186244077	chr12:56270651-56270652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545351323	chr12:56270677-56270678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78743715	chr12:56270678-56270679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77200922	chr12:56270680-56270681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566539627	chr12:56270720-56270721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189696504	chr12:56270752-56270753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548977541	chr12:56270761-56270762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557718245	chr12:56270762-56270763	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181968368	chr12:56270788-56270789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538160396	chr12:56270789-56270790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6581086	chr12:56270799-56270800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571555995	chr12:56270803-56270804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539202792	chr12:56270828-56270829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7484392	chr12:56270833-56270834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577464466	chr12:56270837-56270838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1081768	chr12:56270842-56270843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554949906	chr12:56270845-56270846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546410984	chr12:56270851-56270852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553637847	chr12:56270874-56270875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544556793	chr12:56270890-56270891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573556625	chr12:56270893-56270894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562766207	chr12:56270911-56270912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141787940	chr12:56270967-56270968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146200655	chr12:56270977-56270978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560055472	chr12:56271008-56271009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527402582	chr12:56271056-56271057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139200999	chr12:56271077-56271078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566964177	chr12:56271190-56271191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73121266	chr12:56271219-56271220	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550090386	chr12:56271282-56271283	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372261261	chr12:56271285-56271286	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142028120	chr12:56271319-56271320	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571594923	chr12:56271383-56271384	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538930858	chr12:56271406-56271407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141613496	chr12:56271446-56271447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566096158	chr12:56271505-56271506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536757869	chr12:56271540-56271541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555087708	chr12:56271564-56271565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Leukemia	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56268400-56272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:56268600-56271000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:56269400-56271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:56269800-56270400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:56269800-56274600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:56270000-56270600	Enhancers	HSMMtube	muscle
7	chr12:56270200-56273600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:56270600-56292600	Weak transcription	HSMMtube	muscle
9	chr12:56271000-56271800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:56271400-56271800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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