Variant report

Variant	esv3325031
Chromosome Location	chr12:40539585-40541333
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	CTCF	chr12:40539700-40539850	HRE	kidney:	n/a	n/a
2	CTCF	chr12:40539660-40539810	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr12:40539620-40539770	Caco-2	colon:	n/a	n/a
4	CTCF	chr12:40539740-40539890	A549	lung:	n/a	n/a
5	CTCF	chr12:40539612-40539661	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:40539546-40539674	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:40539620-40539770	HCT-116	colon:	n/a	n/a
8	MYC	chr12:40540808-40540848	NB4	blood:	n/a	n/a
9	SPI1	chr12:40541064-40541566	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260943	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186751292	chr12:40539587-40539588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534870415	chr12:40539592-40539593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113211197	chr12:40539648-40539649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546802853	chr12:40539659-40539660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144917126	chr12:40539677-40539678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147925542	chr12:40539689-40539690	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376239858	chr12:40539693-40539694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200049887	chr12:40539702-40539703	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374994717	chr12:40539703-40539704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs28527769	chr12:40539709-40539710	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11175324	chr12:40539711-40539712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28689900	chr12:40539713-40539714	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs71078214	chr12:40539714-40539715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372692579	chr12:40539717-40539718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375882922	chr12:40539723-40539724	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200441407	chr12:40539729-40539730	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs71078215	chr12:40539730-40539731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372548484	chr12:40539739-40539740	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192038771	chr12:40539745-40539746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371397780	chr12:40539796-40539797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575945752	chr12:40539813-40539814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182911802	chr12:40539825-40539826	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537073543	chr12:40539837-40539838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs73263697	chr12:40539864-40539865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs77943660	chr12:40539876-40539877	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
26	rs116313537	chr12:40539899-40539900	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs11175326	chr12:40539904-40539905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs71078216	chr12:40539915-40539916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372384194	chr12:40539916-40539917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188363837	chr12:40539946-40539947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138800047	chr12:40539958-40539959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189593349	chr12:40539962-40539963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74988861	chr12:40539974-40539975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530158773	chr12:40539977-40539978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201987572	chr12:40540023-40540024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182253840	chr12:40540024-40540025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11175327	chr12:40540029-40540030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs138666529	chr12:40540031-40540032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376812820	chr12:40540049-40540050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561846140	chr12:40540055-40540056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372921419	chr12:40540057-40540058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377137896	chr12:40540059-40540060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113195750	chr12:40540071-40540072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370302648	chr12:40540073-40540074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112667717	chr12:40540075-40540076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369321037	chr12:40540080-40540081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71443907	chr12:40540081-40540082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs374311447	chr12:40540088-40540089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377766624	chr12:40540090-40540091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372536542	chr12:40540102-40540103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40540800-40541400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40541000-40541800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr12:40541200-40541400	Enhancers	Aorta	Aorta

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