Phenotype

  Cell Types/Tissues  

 Cell Types/Tissues additional information

Chip-Seq Source for enhancer annotation

Enhancer annotation (based on Chip-Seq), Main Procedure

RNA-Seq Source

Gene Expression quantification main procedure

HiC – TAD maps Source

TAD maps main procedure

  

Cardiovascular

Day 5

Day 5 cardiac mesodermal cells, from 80 days ESC differentiation towards ventricular cardiomyocytes

For + info: https://www.nature.com/articles/s41588-019-0479-7

https://doi.org/10.1038/s41588-019-0479-7

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://doi.org/10.1038/s41588-019-0479-7

FPKMs directly obtained from source

https://doi.org/10.1038/s41588-019-0479-7

TAD map generated upon processing Day 5 cardiomyocyte differentiation HiC data.

TADs were called with the usage of the tool DomainCaller by considering the 50kb contact matrices in the .hic files

  

Day 7

Day 7 cardiac progenitors, from 80 days ESC differentiation towards ventricular cardiomyocytes

For + info: https://www.nature.com/articles/s41588-019-0479-7

https://doi.org/10.1038/s41588-019-0479-7

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://doi.org/10.1038/s41588-019-0479-7

FPKMs directly obtained from source

https://doi.org/10.1038/s41588-019-0479-7

TAD map generated upon processing Day 7 cardiomyocyte differentiation HiC data.

TADs were called with the usage of the tool DomainCaller by considering the 50kb contact matrices in the .hic files

  

Day 15

Day 15 primitive cardiomyocytes, from 80 days ESC differentiation towards ventricular cardiomyocytes

For + info: https://www.nature.com/articles/s41588-019-0479-7

https://doi.org/10.1038/s41588-019-0479-7

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://doi.org/10.1038/s41588-019-0479-7

FPKMs directly obtained from source

https://doi.org/10.1038/s41588-019-0479-7

TAD map generated upon processing Day 15 cardiomyocyte differentiation HiC data.

TADs were called with the usage of the tool DomainCaller by considering the 50kb contact matrices in the .hic files

  

Day 80

Day 80 ventricular cardiomiocytes, from 80 days ESC differentiation towards ventricular cardiomyocytes

For + info: https://www.nature.com/articles/s41588-019-0479-7

https://doi.org/10.1038/s41588-019-0479-7

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://doi.org/10.1038/s41588-019-0479-7

FPKMs directly obtained from source

https://doi.org/10.1038/s41588-019-0479-7

TAD map generated upon processing Day 80 cardiomyocyte differentiation HiC data.

TADs were called with the usage of the tool DomainCaller by considering the 50kb contact matrices in the .hic files

  

Head-Neck

Neural Crest Early

Neural Crest Data of hNCC differentiation

This NC data corresponds with an early and heterogeneous stage of NC differentiation

For +info: https://pubmed.ncbi.nlm.nih.gov/22981823/

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE28876

p300 peak, intersecting H3K27ac peak, with distance > 10Kb to protein coding TSS

(Peaks were called upon reads mapping with Bowtie2 with Macs2)

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE28876

FPKMs obtained upon reads mapping with Tophat2 and gene expression quantification with Cufflinks

3D genome browser: http://3dgenome.fsm.northwestern.edu/

TAD maps: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

ESC TAD map directly obtained from: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

  

Neural Crest Late

Neural Crest Data of hNCC differentiation

P4 differentiation stage, it corresponds with a later and more homogeneous stage of NC differentation in comparison with Neural Crest Early

For +info: https://pubmed.ncbi.nlm.nih.gov/26365491/

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE70751

p300 peak, intersecting H3K27ac peak, with distance > 10Kb to protein coding TSS

(Peaks were called upon reads mapping with Bowtie2 with Macs2)

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE70751

FPKMs obtained upon reads mapping with Tophat2 and  gene expression quantification with Cufflinks

3D genome browser: http://3dgenome.fsm.northwestern.edu/

TAD maps: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

ESC TAD map directly obtained from: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

  

PalateCS20

Embryonic Palate Carnagie Stage 20

For +info: https://pubmed.ncbi.nlm.nih.gov/29719267/

https://pubmed.ncbi.nlm.nih.gov/29719267/

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called with Macs2 using the provided alignment files (tagAlign))

https://elifesciences.org/articles/15657

To obtain the FPKMs, first, the bedfiles containing the reads mapping coordinates (.unique.bed12) for Palate1 sample were converted into bam files with bedToBam tool.

Next FPKMs were computed with Cufflinks.

3D genome browser: http://3dgenome.fsm.northwestern.edu/

TAD maps: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

ESC TAD map directly obtained from: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

  

Limbs

EmbryonicLimb1

Embryonic Lower Limb data of entire limb buds, Carnegie Stages 14-19

For +info: https://www.nature.com/articles/s41467-020-17305-2

https://www.nature.com/articles/s41467-020-17305-2

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://elifesciences.org/articles/15657

 

To obtain the FPKMs, first, the bedfiles containing the reads mapping coordinates (.unique.bed12) for Lower Limb samples were converted into bam files with bedToBam tool.

Next FPKMs were computed with Cufflinks.

3D genome browser: http://3dgenome.fsm.northwestern.edu/

TAD maps: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

ESC TAD map directly obtained from: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

  

EmbryonicLimb2

Embryonic Upper Limb data of entire limb buds, Carnegie Stages 14-19

For +info: https://www.nature.com/articles/s41467-020-17305-2

https://www.nature.com/articles/s41467-020-17305-2

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were called after reads mapping with Bowtie2 with Macs2)

https://elifesciences.org/articles/15657

 

To obtain the FPKMs, first, the bedfiles containing the reads mapping coordinates (.unique.bed12) for Upper Limb samples were converted into bam files with bedToBam tool.

Next FPKMs were computed with Cufflinks.

3D genome browser: http://3dgenome.fsm.northwestern.edu/

TAD maps: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

ESC TAD map directly obtained from: http://3dgenome.fsm.northwestern.edu/downloads/hg19.TADs.zip

  

Neurodevelopmental

PfcGw15

Brain prefrontal cortex Gestation Week 15

For +info: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE149268

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE149268

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were directly obtained from source)

From database: https://www.brainspan.org/static/home

 

Expression values obtained from file: summarized to genes file

Given that gestational age is 2 weeks longer than conceptional age, post conception week 13 (pcw13) samples information was considered to match with chip-seq gestation week 15 data

Expression value computed as the average of the pcw13 samples: VFC (ventrolateral prefrontal cortex), MFC[anterior (rostral) cingulate (medial prefrontal) cortex] and DFC(dorsolateral prefrontal cortex)

 

https://doi.org/10.1016/j.celrep.2016.10.061

Brain Prefrontal Cortex TAD map, generated from CO (prefrontal cortex) boundary map provided in the referenced source.

The Excelfile containing the boundary maps can be found here:

https://www.cell.com/cms/10.1016/j.celrep.2016.10.061/attachment/c3954472-3378-4fd7-aa33-9a2d085f7bbd/mmc4.xlsx

  

PfcGw18

Brain prefrontal cortex Gestation Week 18

For +info: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE149268

https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE149268

H3K27ac peak with distance > 10Kb to protein coding TSS

(Peaks were directly obtained from source)

From database: https://www.brainspan.org/static/home

 

Expression values obtained from file: summarized to genes file

Given that gestational age is 2 weeks longer than conceptional age, post conception week 16 (pcw16) samples information was considered to match with chip-seq gestation week 18 data

Expression value computed as the average of the pcw16 samples: VFC (ventrolateral prefrontal cortex), MFC[anterior (rostral) cingulate (medial prefrontal) cortex] and DFC(dorsolateral prefrontal cortex)

 

https://doi.org/10.1016/j.celrep.2016.10.061

Brain Prefrontal Cortex TAD map, generated from CO (prefrontal cortex) boundary map provided in the referenced source.

The Excelfile containing the boundary maps can be found here:

https://www.cell.com/cms/10.1016/j.celrep.2016.10.061/attachment/c3954472-3378-4fd7-aa33-9a2d085f7bbd/mmc4.xlsx

  

Vision-Eye

Retina

Retina (from Adults)

For +info: https://pubmed.ncbi.nlm.nih.gov/32265282/

https://pubmed.ncbi.nlm.nih.gov/32265282/

Liftover of enhancer coordinates from hg38 to hg19, as provided by source

(derived of ATAC peaks overlapping H3K27ac peaks) .

In addition enhancers < 2.5kb from any protein coding TSS were discarded.

https://pubmed.ncbi.nlm.nih.gov/32265282/

FPKMs obtained upon reads mapping with Hisat2 and gene expression quantification with Cufflinks

https://pubmed.ncbi.nlm.nih.gov/36207300/

Retina TAD map obtained from source after liftovering coordinates from hg38 to hg19.

Since no TADs for chrX were provided in the source, those from ESCs were considered as reference for chrX.

  

RPE

Retina Pigment Epithelium (from Adults)

For +info: https://pubmed.ncbi.nlm.nih.gov/32265282/

https://pubmed.ncbi.nlm.nih.gov/32265282/

Liftover of enhancer coordinates from hg38 to hg19, as provided by source

(derived of Dnase-seq peaks overlapping H3K27ac peaks) .

In addition enhancers < 2.5kb from any protein coding TSS were discarded.

https://pubmed.ncbi.nlm.nih.gov/32265282/

FPKMs obtained upon reads mapping with Hisat2 and gene expression quantification with Cufflinks

https://pubmed.ncbi.nlm.nih.gov/36207300/

Retina TAD map obtained from source after liftovering coordinates from hg38 to hg19.

Since no TADs for chrX were provided in the source, those from ESCs were considered as reference for chrX.