Variant report

Variant	esv3325260
Chromosome Location	chr12:42048910-42051458
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	MAFF	chr12:42050336-42050596	HepG2	liver:	n/a	chr12:42050448-42050466
2	MAFK	chr12:42050297-42050627	HepG2	liver:	n/a	chr12:42050449-42050465 chr12:42050449-42050464 chr12:42050454-42050465 chr12:42050444-42050464 chr12:42050454-42050465
3	MAFK	chr12:42050334-42050603	HepG2	liver:	n/a	chr12:42050449-42050465 chr12:42050449-42050464 chr12:42050454-42050465 chr12:42050444-42050464 chr12:42050454-42050465
4	MAFK	chr12:42050300-42050617	IMR90	lung:	n/a	chr12:42050449-42050465 chr12:42050449-42050464 chr12:42050454-42050465 chr12:42050444-42050464 chr12:42050454-42050465
5	POLR2A	chr12:42049782-42049907	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr12:42049585-42049785	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNA5SP360	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534403683	chr12:42048926-42048927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546835483	chr12:42048953-42048954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146771720	chr12:42049013-42049014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73284155	chr12:42049022-42049023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557383014	chr12:42049033-42049034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558352332	chr12:42049066-42049067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73284156	chr12:42049146-42049147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185678899	chr12:42049155-42049156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148509770	chr12:42049172-42049173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573423826	chr12:42049190-42049191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140798668	chr12:42049197-42049198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540736410	chr12:42049223-42049224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540933251	chr12:42049261-42049262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144923966	chr12:42049263-42049264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565340720	chr12:42049302-42049303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189578966	chr12:42049335-42049336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545196043	chr12:42049342-42049343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111397823	chr12:42049355-42049356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530818720	chr12:42049367-42049368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548745056	chr12:42049420-42049421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12307456	chr12:42049422-42049423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs287006	chr12:42049429-42049430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs287005	chr12:42049470-42049471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570972191	chr12:42049502-42049503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538866378	chr12:42049503-42049504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142865158	chr12:42049518-42049519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562227600	chr12:42049551-42049552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181547798	chr12:42049593-42049594	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536951871	chr12:42049594-42049595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554920690	chr12:42049676-42049677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532889501	chr12:42049690-42049691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs566883582	chr12:42049713-42049714	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs151075059	chr12:42049722-42049723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531217200	chr12:42049738-42049739	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs80026365	chr12:42049746-42049747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs12229433	chr12:42049754-42049755	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544911198	chr12:42049759-42049760	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs557111153	chr12:42049776-42049777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs551257364	chr12:42049787-42049788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs575495626	chr12:42049863-42049864	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79737253	chr12:42049864-42049865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs185959641	chr12:42049909-42049910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189156534	chr12:42049959-42049960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200442536	chr12:42050015-42050016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545656391	chr12:42050025-42050026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60320879	chr12:42050033-42050034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71081766	chr12:42050052-42050053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61408283	chr12:42050123-42050124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57245470	chr12:42050124-42050125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs810229	chr12:42050125-42050126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42045000-42052600	Weak transcription	Fetal Brain Male	brain

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