Table 2. Reference data of regulatory elements.

Transcriptional regulation

 

TF binding regions

 

Transcription Factor Binding Sites by ChIP-seq from ENCODE/HAIB

 

Transcription Factor Binding Sites by ChIP-seq from ENCODE/Stanford/Yale/USC/Harvard

 

Transcription Factor Binding Sites by Epitope-Tag ChIP-seq from ENCODE/University of Chicago

 

Open Chromatin TFBS by ChIP-seq from ENCODE/Open Chrom(UT Austin)

 

CTCF Binding Sites by ChIP-seq from ENCODE/University of Washington

 

Predicted TF binding sites and TF binding motifs

 

JASPAR(1)

 

ENCODE-motif (2)

 

UCSC conserved TFBS(3)

 

TRANSFAC(4)

 

Chromatin interactive regions

 

Chromatin Interaction Analysis Paired-End Tags (ChIA-PET) from ENCODE/GIS-Ruan

 

Chromatin Interactions by 5C from ENCODE/Dekker Univ. Mass.

 

Chromatin Interactions by 5C from ENCODE/University of Washington

 

Topologically associated domains (TADs)

 

ENCODE Hi-C proceed data

Post-transcriptional regulation

 

Mature miRNAs

 

miRBase(5)

 

miRNA target sites

 

TargetScan (6)

 

miRNAda(7)

 

lncRNAs

 

LNCipedia(8)

 

circRNAs

 

CircNet(9)

 

Table 3. Reference data for E-G pair analysis

 

miRNA - gene pairs

 

miR2Disease(10)

 

miRTarBase(11)

 

TargetScan (6)

 

miRNAda(7)

 

lncRNA-gene pairs

 

LncRNA2Target(12)

 

Table 4. Reference data for extended analysis

Type

Reference database

Association between variant and disease

GWAS catalog(13);HGMD(14)

Association between variant and mRNA abundance

seeQTL(15); SCAN(16); NCBI eQTL browser (17); http://eqtl.uchicago.edu/cgi-bin/gbrowse/eqtl/(18-23); RTeQTL database (25); BrainEAC (26); skin eQTL database(27); GTEx Portal(28)

Linkage disequilibrium (LD) correlations between SNPs

International HapMap Consortium(29,30) ; MaCH(31)