About Enhancer

Enhancer ID: E_01_0399
Species: human
Position : chr10:22317950-22319950
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Childhood acute lymphoblastic leukaemia (all)
Pubmed ID:  29923177
Enhancer experiment: CHIP-seq,GWS,Enhancer assay,H3k27ac HiChIP data analysis,MethylC-Seq Analysis,Transcription factor binding analysis,
Enhancer experiment description: At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.

About Target gene

Target gene : PIP4K2A
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.

About TF

TF name : BMI1MYBL2(B-MYB,BMYB)RUNX1(AML1,AML1-EVI-1,AMLCR1,CBF2alpha,CBFA2,EVI-1,PEBP2aB,PEBP2alpha)ARID5BIKZF1CEBPEGATA3(HDR,HDRS)
TF experiment: CHIP-seq,GWS,Enhancer assay,H3k27ac HiChIP data analysis,MethylC-Seq Analysis,Transcription factor binding analysis,
TF experiment description: At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.;At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.

About Function

Enhancer function : At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
At PIP4K2A, we identified rs4748812 (Pmeta=1.3x10-15), which alters a RUNX1 binding motif and demonstrated chromosomal looping to the PIP4K2A promoter. Fine-mapping chromosome 10p12 in a multi-ethnic ALL GWAS confirmed independent associations and identified putative functional variants upstream of BMI1 and at PIP4K2A.

About SNP


Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
BMI1 Oxidative Stress Induced Senescence reactome 120
BMI1 SUMOylation of DNA damage response and repair proteins reactome 76
BMI1 SUMOylation of RNA binding proteins reactome 46
BMI1 Validated targets of C-MYC transcriptional activation pid 80
BMI1 Hs_Senescence_and_Autophagy_in_Cancer_WP615_81193 wikipathways 62
MYBL2 E2F transcription factor network pid 77
MYBL2 G0 and Early G1 reactome 25
MYBL2 Polo-like kinase mediated events reactome 16
MYBL2 Hs_Gastric_Cancer_Network_1_WP2361_86831 wikipathways 26
MYBL2 Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
RUNX1 AndrogenReceptor netpath 167
RUNX1 Organic cation transport reactome 9
RUNX1 RANKL netpath 84
RUNX1 Regulation of nuclear SMAD2/3 signaling pid 82
RUNX1 TGF_beta_Receptor netpath 220
RUNX1 Validated transcriptional targets of deltaNp63 isoforms pid 47
RUNX1 Pathways in cancer kegg 321
RUNX1 Chronic myeloid leukemia kegg 69
RUNX1 Acute myeloid leukemia kegg 53
ARID5B HDMs demethylate histones reactome 49
IKZF1 Calcineurin-regulated NFAT-dependent transcription in lymphocytes pid 50
GATA3 C-MYB transcription factor network pid 87
GATA3 Calcineurin-regulated NFAT-dependent transcription in lymphocytes pid 50
GATA3 Factors involved in megakaryocyte development and platelet production reactome 111
GATA3 Glucocorticoid receptor regulatory network pid 85
GATA3 IL27-mediated signaling events pid 26
GATA3 Notch signaling pathway pid 58
GATA3 Regulation of nuclear SMAD2/3 signaling pid 82
GATA3 Hs_Endochondral_Ossification_WP474_87977 wikipathways 43
GATA3 Hs_White_fat_cell_differentiation_WP3946_90940 wikipathways 30

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs