Variant report

Variant	esv3364171
Chromosome Location	chr12:8309266-8309453
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	CCNT2	chr12:8309416-8309744	K562	blood:	n/a	n/a
2	FOS	chr12:8309039-8309943	MCF10A-Er-Src	breast:	n/a	chr12:8309427-8309439 chr12:8309700-8309711 chr12:8309425-8309436 chr12:8309810-8309822
3	FOS	chr12:8309025-8310321	MCF10A-Er-Src	breast:	n/a	chr12:8309427-8309439 chr12:8309700-8309711 chr12:8309425-8309436 chr12:8310054-8310063 chr12:8309810-8309822
4	FOS	chr12:8309039-8309877	MCF10A-Er-Src	breast:	n/a	chr12:8309427-8309439 chr12:8309700-8309711 chr12:8309425-8309436 chr12:8309810-8309822
5	FOS	chr12:8309050-8310069	HUVEC	blood vessel:	n/a	chr12:8309427-8309439 chr12:8309700-8309711 chr12:8309425-8309436 chr12:8310054-8310063 chr12:8309810-8309822
6	JUND	chr12:8309364-8310038	SK-N-SH	brain:	n/a	chr12:8309427-8309439 chr12:8309425-8309436 chr12:8309810-8309822
7	MAFF	chr12:8309430-8309837	K562	blood:	n/a	n/a
8	MAFK	chr12:8309433-8309880	K562	blood:	n/a	chr12:8309801-8309815
9	MYC	chr12:8309430-8309824	K562	blood:	n/a	n/a
10	PBX3	chr12:8309316-8309982	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:8309429-8309974	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr12:8309405-8310113	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:8309243-8309863	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr12:8309444-8309725	K562	blood:	n/a	chr12:8309714-8309723 chr12:8309595-8309602 chr12:8309593-8309606
15	SPI1	chr12:8309395-8309905	HL-60	blood:	n/a	chr12:8309714-8309723 chr12:8309595-8309602 chr12:8309593-8309606
16	SPI1	chr12:8309342-8310031	HL-60	blood:	n/a	chr12:8309714-8309723 chr12:8309595-8309602 chr12:8309593-8309606
17	SPI1	chr12:8309435-8309752	K562	blood:	n/a	chr12:8309714-8309723 chr12:8309595-8309602 chr12:8309593-8309606
18	STAT3	chr12:8309005-8310061	MCF10A-Er-Src	breast:	n/a	chr12:8309988-8309999 chr12:8309713-8309720 chr12:8309662-8309685
19	STAT3	chr12:8309080-8309897	MCF10A-Er-Src	breast:	n/a	chr12:8309713-8309720 chr12:8309662-8309685
20	TCF12	chr12:8309271-8310046	SK-N-SH	brain:	n/a	n/a
21	TEAD4	chr12:8309375-8309921	K562	blood:	n/a	chr12:8309732-8309741

Variant related genes	Relation type
ZNF705A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 78 )

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	rs142271941	chr12:8309270-8309271	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188129688	chr12:8309296-8309297	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371705487	chr12:8309325-8309326	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12312818	chr12:8309381-8309382	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs11043661	chr12:8309400-8309401	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150835509	chr12:8309423-8309424	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7307734	chr12:8309433-8309434	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113991412	chr12:8309448-8309449	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8306400-8311000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:8306600-8311000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:8307800-8309400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:8308000-8309400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:8308600-8309400	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:8308600-8309400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:8308600-8309400	Enhancers	HUVEC	blood vessel
8	chr12:8308600-8310800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:8308600-8310800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:8308800-8309400	Weak transcription	Primary T cells from cord blood	blood
11	chr12:8308800-8309600	Enhancers	A549	lung
12	chr12:8308800-8310600	Enhancers	HMEC	breast
13	chr12:8309000-8309600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:8309000-8310400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:8309000-8310600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:8309200-8309800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:8309200-8309800	Enhancers	HSMM	muscle
18	chr12:8309200-8310000	Enhancers	NHEK	skin
19	chr12:8309200-8310200	Enhancers	K562	blood
20	chr12:8309200-8310200	Enhancers	Osteobl	bone
21	chr12:8309200-8310600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:8309200-8310600	Enhancers	NH-A	brain
23	chr12:8309200-8311000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:8309400-8309600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:8309400-8309600	Enhancers	Primary T cells from cord blood	blood
26	chr12:8309400-8309600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:8309400-8309600	Flanking Active TSS	HUVEC	blood vessel
28	chr12:8309400-8309800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr12:8309400-8310000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:8309400-8310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:8309400-8310000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:8309400-8310000	Enhancers	Hela-S3	cervix
33	chr12:8309400-8310200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:8309400-8310200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:8309400-8310400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:8309400-8310400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:8309400-8310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:8309400-8310600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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