Variant report

Variant	esv3420727
Chromosome Location	chr12:104278729-104278879
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	chr12:104278740-104278890	AG04450	lung:	n/a	n/a
2	CTCF	chr12:104277847-104278936	A549	lung:	n/a	chr12:104278381-104278394 chr12:104278195-104278211
3	CTCF	chr12:104278640-104278790	HPF	lung:	n/a	n/a
4	MXI1	chr12:104277868-104279101	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr12:104277613-104278976	SK-N-SH	brain:	n/a	n/a
6	SPI1	chr12:104277900-104278752	GM12878	blood:	n/a	chr12:104278241-104278254 chr12:104278244-104278253
7	YY1	chr12:104278741-104279054	GM12891	blood:	n/a	chr12:104278965-104278977
8	YY1	chr12:104278787-104279128	GM12892	blood:	n/a	chr12:104278965-104278977
9	YY1	chr12:104278806-104279097	GM12878	blood:	n/a	chr12:104278965-104278977
10	YY1	chr12:104278814-104279082	H1-hESC	embryonic stem cell:	n/a	chr12:104278965-104278977
11	YY1	chr12:104278803-104279096	K562	blood:	n/a	chr12:104278965-104278977

No.	Distal block	Cell Line	Cell type
1	chr12:104233142..104235484-chr12:104276450..104278828,3	K562	blood:
2	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
3	chr12:104233142..104235198-chr12:104276474..104278828,2	K562	blood:
4	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
5	chr12:104276117..104279238-chr12:104322705..104326968,4	K562	blood:
6	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
7	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000214198	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000166598	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377162179	chr12:104278729-104278730	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs529447798	chr12:104278781-104278782	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs12370088	chr12:104278783-104278784	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs2576970	chr12:104278787-104278788	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs528469941	chr12:104278792-104278793	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs551321737	chr12:104278840-104278841	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570677141	chr12:104278851-104278852	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs386765925	chr12:104278869-104278870	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:104276800-104278800	Enhancers	GM12878-XiMat	blood
3	chr12:104278200-104279200	Enhancers	Thymus	Thymus
4	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
5	chr12:104278800-104280200	Weak transcription	GM12878-XiMat	blood

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