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Basic information

CohesinDB ID: CDBP00421134

Locus: chr21-44922496-44936465

Data sourse: ENCSR230ZWH, ENCSR000BSB, ENCSR000EGW, GSE131606, ENCSR330ELC, ENCSR000BUC, ENCSR000DYE, ENCSR917QNE, GSE115602, GSE139435, GSE93080, GSE67783, GSE86191, GSE101921, ENCSR806UKK, GSE120943, ENCSR198ZYJ, GSE112028, GSE130135, ENCSR199XBQ, GSE94872, ENCSR895JMI, GSE118494, ENCSR000EEG, ENCSR338DUC, ENCSR247LSH, ENCSR676MJK, GSE155324, ENCSR054FKH, GSE83726, GSE126755, ENCSR748MVX, ENCSR000ECS, GSE131577, ENCSR000BLD, GSE38411, GSE104888, GSE126634, GSE103477, GSE108869, GSE143937, GSE138405, GSE135093, GSE106870, ENCSR193NSH, GSE206145, GSE85526, ENCSR000ECE, ENCSR620NWG, ENCSR767DFK, ENCSR984DZW, GSE55407, ENCSR000BTQ, GSE129526, ENCSR537EFT, ENCSR760NPX, ENCSR000BLY, ENCSR150EFU, GSE111537, GSE25021, ENCSR000EAC, GSE115250, GSE76893, GSE145327, GSE76815, ENCSR000BMY, ENCSR000EHX, ENCSR635OSG, GSE97394, ENCSR217ELF, GSE38395, GSE131956, GSE110061, ENCSR000HPG, GSE111913, ENCSR335RKQ, ENCSR000EDE, GSE50893, ENCSR481YWD, GSE206145-GSE177045, GSE72082, ENCSR501LQA, GSE116868, GSE105028, GSE165895, ENCSR000EFJ, ENCSR000BTU, ENCSR000DZP, ENCSR000BKV, GSE152721, GSE206145-NatGen2015, GSE138105, ENCSR703TNG, GSE116344, GSE98367, ENCSR768DOX, ENCSR879KXD, ENCSR000BLS, ENCSR000EHW, GSE155828, ENCSR981FDC, ENCSR807WAC, GSE62063, ENCSR495WGO, ENCSR167MTG, ENCSR853VWZ, ENCSR956LGB, ENCSR944ZCT, ENCSR153HNT, GSE68388, GSE126990

Cell type: MDM, RH4, GM10847, GM2610, SLK, CVB-hiPSC, GM19240, OCI-AML-3, HSPC, CVI-hiPSC, Liver, Transformed-RPE1, TC-32, HuCC-T1, B-cell, H9-hESC, GM2630, RPE, Fibroblast, HEKn, THP-1, Ishikawa, GM12890, HeLa-S3, hLCL, GM2255, IMR-90, BCBL-1, K-562, GM18486, DKO, HFFc6, GM18526, H1-hESC, SNYDER, Monocytes, GM18505, Leukemia-SEM, MB157, Lymphoblast, GM12878, GM12891, GM2588, GBM39, SK-N-SH, GM19239, HeLa-Tet-On, GM19193, RT-112, HAP1, GM19099, HUES64, Macrophage, GM12892, MCF-7, Hela-Kyoto, HCT-116, HL-60, HEK293T, Hep-G2, MCF-10A, Neurons-H1, A-549, HUVEC, HCAEC, Ramos, GM19238, TC-71, Neutrophil, GM18951

DNA Sequence of binding site: UCSC hg38

Cohesin category

Peak occupancy ratio: 79% samples have this site.

Cell specificity (0: conserved, 1: cell type specific): 0.200

Subunit: NIPBL,SA1,Rad21,SMC1,SA2,Mau2,SMC3

CTCF binding site: CTCF CTCF motif: False

Genomic location: TSS,TES

3D genome

TAD boundary: Boundary

Chromatin hubs: Hub

Hi-C loops: True Hi-ChIP loops: True ChIA-PET loops: True

Compartment: 81% Hi-C samples shows Compartment A

Cis-regulatory elements

Enhancer (Fantom5): Enhancer

Super enhancer (SEdb): True

Chromatin annotation: "7_Enh": 16%, "12_EnhBiv": 15%,
Note: The percentage represent how many of the 127 Roadmap datasets show the indicated state (top 2).

Co-bound Transcriptional factors: FOXO1, NFIA, TRIM25, ZNF426, NME2, FOXA1, HLF, RXRB, MLL4, KDM3A, ZBTB7B, HDGF, MEN1, TASOR, THAP1, ZBTB44, IKZF3, MORC2, PAX5, ZNF320, SFPQ, TEAD1, ZNF121, E2F5, LMO2, OCA2, MED26, PITX3, HDAC8, ZNF561, ZNF577, E4F1, ARID5B, ZNF157, SOX5, ZNF75A, PAX8, E2F4, DEK, ZNF410, NR5A2, ZNF528, RFX3, KMT2B, GATAD2A, JARID2, NANOG, ZNF263, BRD3, TOP2A, POU5F1, CTBP1, ZMYND11, ERF, STAT1, SAP130, ERG, ZBTB21, ZBTB8A, NFKB2, EZH1, SMARCA4, RFX1, FOXK2, ZNF8, UBN1, ZNF398, RCOR1, NR2F6, CD74, NFRKB, CEBPB, HNRNPL, CREB1, EPAS1, DDX21, BMPR1A, GABPB1, ZHX2, ELF4, MIXL1, KLF17, ZNF257, GATA2, ZNF644, MXD3, FLI1, DRAP1, MXI1, HCFC1, NR2C2, ZNF785, RELB, HCFC1R1, EP400, RUVBL2, RUNX1, CEBPA, HDAC1, NKX2-2, CRY1, IRF3, REPIN1, TET2, TBX3, ZNF654, SP5, MCM2, TRIM22, SMARCC1, PRDM10, ZNF549, ZBTB2, ZXDC, ELK1, TFDP1, ZBTB10, ATF2, SOX11, FOXM1, SP2, SMARCB1, GMEB1, TERF1, PML, PIAS1, SMAD1, NR1H2, C11orf30, EVI1, MBD1, STAT5A, GSPT2, IKZF5, ARID2, OVOL3, RBM25, ZSCAN31, MBD2, ELL2, HMGB1, ETV4, NFATC3, ZSCAN18, CBFA2T2, MEF2B, ZNF207, CBX3, CREM, CHD2, BRF2, SS18, PAF1, NFATC1, ZSCAN16, WT1, MEF2C, CREB3L1, NEUROD1, JUNB, MCM3, TCF4, ZFP36, BATF, MAF1, SPIB, PLAG1, KLF4, BCL11B, ZFP69B, ZNF281, ZNF784, ZBTB6, MED, EGR2, ELF3, RBM14, ARID4B, RXR, EGLN2, ZNF366, ZBTB26, HSF1, NCOR1, SCRT1, ILF3, ZNF316, FOSL1, SMARCA2, ZNF660, XBP1, HNF1A, KDM4B, ZNF101, ZNF221, PBX2, ZNF596, HNRNPK, TSC22D4, ATF3, THRB, ZFP64, HNRNPUL1, RUNX3, WDHD1, CBFB, TP63, ZSCAN4, MITF, BACH2, CDC5L, ZNF467, MYOG, MAF, JMJD1C, ELF1, INTS11, ZNF573, RBM39, SNAI2, KLF10, SMAD5, FUS, CTCF, JUN, TAF3, L3MBTL4, MNT, ZBTB20, LMO1, DPF2, RYBP, SIX5, IRF4, ZNF423, ZNF280A, PDX1, RBPJ, MLX, TFAP2C, YBX1, ZNF239, MTA2, ZBTB17, ZBTB48, ZNF317, ZSCAN21, NONO, SRF, DDX5, NBN, CHD4, PBX1, ZNF329, ZNF626, KDM4A, HOMEZ, ZNF2, TSHZ1, FOXP2, RXRA, NKX3-1, PRDM14, MIER3, HNRNPH1, TERF2, LEF1, VDR, NR3C1, ESRRA, STAT5B, KMT2A, ZBTB11, CCAR2, FOXK1, TBL1XR1, KLF8, ARHGAP35, GRHL2, EBF3, KDM5A, ZBTB14, SSRP1, ZNF146, ZSCAN29, SMARCA5, NFIL3, CC2D1A, THAP11, ZBTB24, EZH2phosphoT487, SOX13, AFF4, ZNF770, ZNF513, ZMIZ1, ZNF18, CEBPZ, SP3, ARNT, NFIB, DAXX, BACH1, ZNF48, PRDM9, ZEB2, NFYA, ETV6, PBX3, NCAPH2, ZNF10, HMGXB4, TEAD3, DIDO1, ZXDB, ZNF680, U2AF1, TAF7, KLF9, TBX5, ZNF37A, USF1, BCL11A, SP1, TFAP2A, ATF7, ASH2L, CTBP2, PCGF2, GLIS2, PRDM6, ZNF623, SMC3, STAG1, MLLT1, STAG2, ZNF394, TRP47, SAFB, AGO1, MTA3, EBF1, MAFF, ESR2, ZNF580, ZKSCAN1, BCL3, KDM1A, KLF7, BRG1, ZNF830, ZIC2, PCGF1, GATA3, KLF15, TAL1, NRIP1, ZNF143, AGO2, MTA1, CBX2, ZNF768, TP53, ZNF334, NFKB1, ZSCAN22, PHOX2B, PHF5A, BRD2, KAT8, ARRB1, TBX21, EGR1, RB1, TFIIIC, RNF2, IKZF2, BRD4, JUND, CUX1, ZSCAN23, SMAD4.1D12, ZNF468, PGR, CBX5, FANCL, PATZ1, LEO1, RING1B, UBTF, SMAD1-5, TFAP4, SIN3B, BMI1, CHD7, ZNF444, ATF4, MXD4, ZNF189, SMARCE1, RLF, KLF6, NFE2L2, ZNF217, ESR1, SAP30, TP73, ZNF524, SND1, KLF1, SOX9, ZNF260, SOX4, ZNF714, E2F6, TRIM24, RFX5, PRKDC, U2AF2, GTF2F1, GLIS1, POU2F2, ZSCAN5D, ZNF778, KDM4C, ZBTB1, ZSCAN5A, ELK4, ERG2, HIC1, SP4, TBP, HNF4G, HOXC5, OGG1, ETS1, MYC, ARID1B, ZNF24, PHF21A, KLF12, NKX2-1, MCRS1, GABPA, STAT3, IKZF1, GFI1, DNMT3B, INO80, SRSF3, EZH2, ZNF652, MRTFA, PHF8, ZNF436, SPI1, ZNF202, PCBP1, HDAC2, INTS13, RBP2, ZNF182, GATAD2B, TAF9B, ZNF777, NCOA2, ZNF554, ZNF76, ETV5, GTF2A2, AHRR, BCL6, SIN3A, ZBTB12, ZFP37, ERG3, NFXL1, MEF2A, RARA, CREBBP, ZNF384, NFYC, TAF15, ZNF35, HMGB2, SMAD4, ZNF518A, CBFA2T3, CDK8, SNRNP70, CSNK2A1, ZEB1, SPDEF, ZNF264, ZMYM3, NCOA1, GTF3C2, SREBF2, ZNF22, RBM22, MAFK, HNF4A, NR4A1, REST, ARID1A, ZHX1, HNRNPLL, BCOR, FOXP1, AATF, NCOR2, CXXC4, ZNF816, PPARG, TBL1X, HDAC6, ZNF692, GTF2B, ZNF30, ZNF662, ZNF574, TCF7, YY2, FOXO3, RELA, TARDBP, ZNF282, SKIL, ZNF611, MGA, MAX, ZNF592, GFI1B, NR2F1, NEUROG2, KDM5B, TCF7L2, PKNOX1, ZNF547, RUVBL1, MYOD1, T, AR, KMT2D, ZBTB16, YAP1, ZNF324, HEXIM1, ZNF280D, ZNF395, DMAP1, AHR, MBD3, FOSL2, ZNF391, HMG20A, E2F7, ZSCAN5C, HMGN3, SUZ12, RBFOX2, ZFHX2, SFMBT1, LYL1, ZNF90, INSM2, NFIC, CTCFL, ZBTB5, PRDM1, KLF14, GLYR1, MECOM, ZNF736, CDX2, ZNF629, ZNF506, KLF5, BCLAF1, TRIM28, ETV1, RCOR2, HNF1B, USF2, ZFP91, TCF12, EP300, BAF155, GATA6, PRDM4, GLI4, SOX6, RAD51, ZNF512B, E2F1, SMC1, TEAD4, FOXA3, ZNF175, EHMT2, ATRX, EED, CHD8, BRD1, MYCN, SRC, CDK7, ID3, RUNX1T1, MLLT3, GATAD1, GMEB2, ARID3A, ZNF300, ZNF585B, ASCL1, USP7, ZNF341, MIER1, MCM5, RAD21, GRHL3, PROX1, APC, ZNF614, XRCC5, NFE2, ZNF639, ARNTL, ZNF750, ZNF501, JMJD6, FEZF1, TFE3, HBP1, EHF, IRF1, ZNF664, SREBF1, ZGPAT, NAB2, MRTFB, ZC3H11A, ZIM3, MYF5, ATF1, PTBP1, ZNF45A, CBX1, MAFG, SMC1A, SIRT6, FIP1L1, ZFX, ZNF534, ZNF335, SMAD3, PCBP2, NMYC, CBX8, TWIST1, NSD2, IRF2, PRPF4, NOTCH1, NCOA6, RUNX2, CDK6, GATA4, SMAD2, ZNF184, ZSCAN30, OSR2, NRF1, PBX4, NR2C1, FOS, CHD1, SUPT5H, TGIF2, MED1, KDM6B, MYB, CEBPD, SCRT2, VEZF1, ZNF3, L3MBTL2, SETDB1, KLF16, NIPBL, PHF20, ZBTB7A, CCNT2, PHIP, TCF3, SKI, NELFA, ZNF283, KLF13, FOXA2, RBBP5, E2F8, MIER2, ZNF600, ZBED1, FOXF1, ZBTB33, CDK9, HOXB13, YY1, ZNF148, ASXL1, ZNF610, SP140, HIF1A, BHLHE22, OTX2, ZNF449, GATA1, TLE3, CEBPG, SP7, NCOA3, NR2F2, ZNF512, ZNF687, ZNF213, ZNF165, ZNF843, ZFP28, NFKBIZ, BHLHE40, TAF1, ZNF579, ZBTB40, ZBTB42, MYNN, CLOCK, MAZ, BRCA1

Target gene symbol (double-evidenced CRMs): UBE2G2,SUMO3,FAM207A,POFUT2,PFKL,ADARB1,TSPEAR,PTTG1IP,COL18A1,PCBP3,TRPM2,ITGB2-AS1,ITGB2,CFAP410

Function elements

Human SNPs: Heel_bone_mineral_density

Number of somatic mutations (coding): 70

Number of somatic mutations (non-coding): 150

Related genes and loops

Related gene: ENSG00000141959, ENSG00000160226, ENSG00000142185, ENSG00000175894, ENSG00000184787, ENSG00000184900, ENSG00000183255, ENSG00000160255, ENSG00000227039, ENSG00000160256, ENSG00000197381, ENSG00000186866, ENSG00000182871, ENSG00000183570,

eachgene

Deatailed information for cohesin site CDBP00421134