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Distal
thoracic aorta endothelial cell(Human) | 1 records |
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PMID: 22955620
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Clinvar (benign)
Clinvar (pathogenic)
Rare variant
Common variant
RUNX1
TFAP2A
Arnt
Ahr::Arnt
Ar
TBXT
PAX5
NR2F1
CREB1
Ddit3::Cebpa
E2F1
NFIL3
EN1
ELK1
Mecom
FOXF2
FOXD1
FOXC1
FOXL1
GATA1
GATA2
GATA3
GFI1
KLF4
Foxq1
Foxd3
FOXI1
HLF
HNF1A
FOXA2
NHLH1
IRF1
IRF2
MEF2A
MZF1
MZF1(var.2)
MAX
MAX::MYC
NFYA
GABPA
NKX2-5
Pparg::Rxra
PPARG
Pax2
PAX4
PAX6
PBX1
RORA
RORA(var.2)
RREB1
RXRA::VDR
PRRX2
ELK4
SOX9
Sox17
SP1
SPI1
SPIB
SRF
SRY
Sox5
ZNF143
NFE2L1
TEAD1
TAL1::TCF3
Hand1::Tcf3
USF1
YY1
ETS1
FOS::JUN
MYB
REL
CEBPA
ZEB1
MYCN
NFKB1
TP53
RELA
TBP
HLTF
Spz1
ESR1
NR3C1
HNF4A
NR1H2::RXRA
Znf423
Mafb
NFIC::TLX1
Nkx3-2
Nkx3-1
Nobox
ZNF354C
HINFP
PDX1
Lhx3
ELF5
STAT1
REST
CTCF
GATA1::TAL1
ESRRB
Pou5f1::Sox2
SOX2
STAT3
TFCP2
Zfx
MYC
FOXA1
EWSR1-FLI1
Nfe2l2
Arid3a
NFATC2
HNF1B
EBF1
INSM1
FEV
FOXO3
HOXA5
RARA::RXRA
NR4A2
NFIC
EGR1
PLAG1
Nr2e3
ESR2
ARNT::HIF1A
SOX10
Atoh1
BATF::JUN
BCL6
BHLHE40
CDX2
CEBPB
Crx
DUX4
E2F3
E2F4
E2F6
EGR2
ELF1
ERG
FLI1
FOS
FOSL1
FOSL2
FOXH1
Foxo1
FOXP1
GATA4
Gfi1b
HNF4G
HOXC9
HSF1
JUN
JUN(var.2)
JUNB
JUND
JUND(var.2)
Klf1
Nr1h3::Rxra
MAFF
MAFK
MEF2C
MEIS1
MYOD1
MYOG
MAF::NFE2
NFYB
Nkx2-5(var.2)
NR2C2
Nr5a2
NRF1
POU2F2
PRDM1
RFX1
RFX5
RUNX2
Rxra
SMAD2::SMAD3::SMAD4
Sox3
Sox6
SP2
STAT1::STAT2
Stat4
Stat5a::Stat5b
Stat6
Tcf12
TCF3
TCF7L2
TFAP2C
TP63
USF2
ZBTB33
ZNF263
Bach1::Mafk
ESRRA
FOXP2
HOXA9
SREBF1
SREBF2
THAP1
EHF
KLF5
RFX2
Arid3b
Arid5a
Arntl
Atf1
ATF3
NFAT5
Bhlha15
Creb3l2
CREM
DMRT3
Dux
EMX1
FOXG1
Foxj2
Gmeb1
HES2
LBX1
LIN54
MITF
mix-a
Mlxip
NEUROG1
NFATC1
NFATC3
Npas2
POU2F3
POU6F1
Rhox11
SHOX
Six3
TCFL5
Twist2
ALX3
BARHL2
BHLHE41
CENPB
CREB3
DBP
ELF3
ELF4
EN2
Esrrg
ESX1
ETV6
GCM1
GRHL1
GSC
HEY2
HOXA13
HOXC11
IRF8
IRF9
ISX
JDP2
JDP2(var.2)
KLF13
LHX6
MAFG
MEF2B
MEOX1
MIXL1
MLX
MLXIPL
MSC
MSX1
MYF6
NEUROD2
NEUROG2
NFIA
NFIX
NKX2-3
NKX2-8
NKX6-1
NKX6-2
Nr2e1
Nr2f6
OLIG2
ONECUT1
PAX7
PHOX2B
PITX1
POU4F2
RUNX3
SP4
SPDEF
SPIC
TBX2
TBX20
TBX21
TFAP4
TFEB
VDR
ZBTB7B
ZBTB7C
ZIC1
ZIC3
ZBTB18
LBX2
LHX2
LHX9
LMX1A
LMX1B
Lhx4
Lhx8
MEOX2
MNX1
MSX2
Msx3
NOTO
OTX1
OTX2
PHOX2A
PITX3
PROP1
PRRX1
RAX2
RAX
RHOXF1
Shox2
UNCX
VAX1
VAX2
VENTX
VSX1
VSX2
NR3C2
Nr2f6(var.2)
RARA
RARA(var.2)
BCL6B
EGR3
EGR4
GLI2
GLIS1
GLIS2
GLIS3
HIC2
Hic1
KLF14
KLF16
Klf12
SCRT1
SCRT2
SNAI2
SP3
SP8
YY2
ZBED1
ZBTB7A
ZIC4
ZNF410
ZNF740
CUX1
CUX2
ONECUT2
ONECUT3
E2F7
ELK3
ERF
ETV1
ETV2
ETV3
ETV4
ETV5
GATA5
GCM2
LEF1
TCF7
HSF2
HSF4
IRF7
MEF2D
MEIS2
MEIS3
MYBL1
MYBL2
NFKB2
PAX1
PAX3
PAX9
PKNOX1
PKNOX2
POU1F1
POU2F1
POU3F1
POU3F2
POU3F3
POU3F4
POU4F1
POU4F3
POU5F1B
POU6F2
PROX1
SMAD3
TGIF1
TGIF2
RFX3
RFX4
EOMES
MGA
TBR1
TBX15
TBX19
TBX1
TBX4
TBX5
TEAD3
TEAD4
TFAP2A(var.2)
TFAP2B
TFAP2B(var.2)
TFAP2B(var.3)
TFAP2C(var.2)
TFAP2C(var.3)
Ascl2
BHLHE23
BHLHE22
CLOCK
FIGLA
HES5
HES7
HEY1
MNT
OLIG1
OLIG3
SREBF2(var.2)
SREBF1(var.2)
TCF4
TFE3
Tcf21
ATF4
ATF7
BATF3
CEBPD
CEBPE
CEBPG
CREB3L1
Creb5
NFE2
NRL
TEF
XBP1
FOXB1
FOXC2
FOXD2
FOXO4
FOXO6
FOXP3
Foxj3
FOXK1
Alx4
Alx1
RXRB
RXRG
Rarb
Rarb(var.2)
Rarg
Rarg(var.2)
TP73
GMEB2
MTF1
E2F2
E2F8
SOX21
SOX4
SOX8
Sox11
Sox1
TFEC
TFAP2A(var.3)
HOXD12
Arx
BARX1
BSX
BARHL1
CDX1
Dlx1
Dlx3
Dlx4
DLX6
Dmbx1
DUXA
Dlx2
EMX2
EVX1
EVX2
GBX1
GBX2
GSC2
GSX1
GSX2
HESX1
HMBOX1
Hmx1
Hmx2
Hmx3
HOXA10
HOXA2
HOXB13
HOXB2
HOXB3
HOXB5
HOXC10
HOXC12
HOXC13
HOXD11
HOXD13
HOXD8
Hoxa11
HOXD3
HOXD9
ISL2
HES1
ASCL1
BACH2
CTCFL
FOXK2
GATA6
GRHL2
HIF1A
KLF9
MXI1
NEUROD1
NR1H4
NR2F2
NR4A1
PBX2
PBX3
POU5F1
RBPJ
RELB
SIX1
SIX2
SOX13
TEAD2
TFDP1
TWIST1
ZNF24
ZNF384
FOS::JUN(var.2)
FOSB::JUN
FOSL1::JUN
FOSL1::JUN(var.2)
FOSL2::JUN
FOSL2::JUN(var.2)
JUN::JUNB
JUN::JUNB(var.2)
FOS::JUNB
FOSB::JUNB
FOSB::JUNB(var.2)
FOSL1::JUNB
FOSL2::JUNB
FOSL2::JUNB(var.2)
JUNB(var.2)
FOS::JUND
FOSL1::JUND
FOSL1::JUND(var.2)
FOSL2::JUND
FOSL2::JUND(var.2)
NR1H4::RXRA
NR4A2::RXRA
PPARA::RXRA
RARA::RXRG
RORB
RORC
SOX15
Smad4
ZNF282
ZSCAN4
IRF3
IRF4
IRF5
TCF7L1
ARGFX
ARNT2
ATF6
ATOH1(var.2)
ATOH7
BACH2(var.2)
BARX2
BHLHA15(var.2)
CDX4
CREB3L4
CREB3L4(var.2)
DLX5
DMRTA2
DMRTC2
DPRX
DRGX
ELF2
ETS2
FERD3L
FOXE1
FOXN3
GLI3
HES6
HNF4A(var.2)
HOXA1
HOXA4
HOXA6
HOXA7
HOXB4
HOXB6
HOXB7
HOXB8
HOXB9
HOXC4
HOXC8
HOXD10
HOXD4
IKZF1
IRF6
KLF10
KLF11
KLF15
KLF17
KLF2
KLF3
KLF6
LHX1
LHX5
MAF
MAFA
MAZ
MSANTD3
MSGN1
NFATC4
NFIC(var.2)
NFIX(var.2)
NHLH2
NKX6-3
NR1D1
NR1D2
NR1I2
NR1I3
NR2C1
NR2C2(var.2)
NR2F1(var.2)
NR2F1(var.3)
NR2F6(var.3)
NR5A1
NR6A1
OSR1
OVOL1
OVOL2
PAX3(var.2)
PITX2
PLAGL2
POU6F1(var.2)
PPARD
RARB(var.3)
RARG(var.3)
RFX7
RXRB(var.2)
RXRG(var.2)
SMAD5
SNAI1
SNAI3
SOHLH2
SOX12
SOX14
SOX18
SP9
TBX18
TBX3
TBX6
TCF21(var.2)
TFAP2E
TFAP4(var.2)
TGIF2LX
TGIF2LY
THAP11
THRB
THRB(var.2)
THRB(var.3)
TLX2
VEZF1
ZBTB26
ZBTB32
ZBTB6
ZFP57
ZIC5
ZKSCAN1
ZNF135
ZNF136
ZNF140
ZNF274
ZNF317
ZNF382
ZNF460
ZNF528
ZNF682
ZNF684
ZNF75D
ZSCAN29
Dmrt1
Ebf2
Foxf1
Foxl2
Isl1
Plagl1
Prdm15
Ptf1a
Ptf1a(var.2)
Ptf1a(var.3)
Rbpjl
Smad2::Smad3
Stat2
Stat5a
Stat5b
Wt1
Zic1::Zic2
Zic2
Znf281
ASCL1(var.2)
ATF2
BACH1
BATF
BHLHE22(var.2)
CEBPG(var.2)
EBF3
HAND2
MEIS1(var.2)
MEIS2(var.2)
MYF5
NEUROG2(var.2)
NFIB
NFYC
NKX2-2
OSR2
PRDM4
TCF12(var.2)
ZBTB12
ZBTB14
ZFP42
ZKSCAN5
ZNF148
ZNF16
ZNF341
ZNF449
ZNF652
FOXA3
Apply
Go
Coordinate
Validation
Epigenomic status
Core promoter element(s)
Mutation
TF registry
chr12:6537917-6538163
K27ac
K4me3
CTCF
I
DPR
TATA
I
DPR
TATA
Common:3; Rare:89
Page 1 of 1
Legend for epigenomic status:
K27ac
K4me3
CTCF
: Enriched for
H3K27ac
and
DNaseI
signal
K27ac
K4me3
CTCF
: Enriched for
H3K4me3
and
DNaseI
signal
K27ac
K4me3
CTCF
: Enriched for
CTCF
binding signal
Legend for core promoter element:
I
DPR
TATA
I
DPR
TATA
: Found
Initiator
I
DPR
TATA
I
DPR
TATA
: Found
DPR
I
DPR
TATA
I
DPR
TATA
: Enriched
TATA box
×
Vertical dashed lines indicate the transcription start sites (TSSs).