Number of variations: | 577,283,813 | Number of common SNPs: | 79,482,384 |
Number of risk SNPs: | 1,515,001 | Number of Risk SNP relationship pairs: | 2,853,083 |
Number of clinical variant-drug pairs: | 3,652 pairs (2,351 variants, 921 genes, 710 chemicals) | ||
LD SNPs (AFR population): | 4,477,132 | LD SNPs (AMR population): | 4,548,152 |
LD SNPs (EAS population): | 3,693,208 | LD SNPs (EUR population): | 4,011,947 |
LD SNPs (SAS population): | 3,838,175 | ||
eQTLs number (GTEx v7): | 48 tissues, 3,052,986 SNPs, 18,126 genes, 16,489,663 pairs | ||
eQTLs number (PancanQTL): | 33 cancer types, 1,370,558 SNPs, 17,353 genes, 5,596,894 pairs | ||
eQTLs number (HaploReg v4.1): | 12 studies, 914,358 SNPs, 20,331 genes, 4,613,715 pairs | ||
Motif changes: | 655,387,982 results, 11,927,922 variants , 766 TFs | ||
Somatic mutations: | 1) 388,861 from TCGA; 2) 7,999,912 from ICGC | ||
Validated enhancers: | 1) 425 from ENdb; 2) 991 from VISTA Enhancer Browser | ||
Disease enhancers: | 1) 477 from EnDisease; 2) 1,058 from DiseaseEnhancer | ||
Active enhancers: | 1) 131,443 from HACER GRO-seq+PRO-seq; 2) 746,512 from FANTOM5 | ||
Typical enhancers: | 6,629,274 (from 542 H3K27Ac Chip-seq samples) | ||
Super enhancers: | 331,146 (from 542 H3K27Ac Chip-seq samples) | ||
FANTOM5 enhancer-gene pairs: | 746,512 pairs, 3 gene strategies(overlapping gene; closest gene; proximal gene) | ||
Lasso predicted enhancer-gene pairs: | 1) 3,049,673 from ENCODE Roadmap; 2) 2,084,640 from FANTOM5 | ||
Promoters: | 1) 62,233 -2kb/1kb of TSS from GENCODE gene; 2) 6,141,059 promoter relevant state from ChromHMM core 15 states |
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ChromHMM core 15 states: | 55,594,354 records (5 marks: H3K4me3, H3K4me1, H3K36me3, H3K27me3, H3K9me3) | ||
Histone modification: | 686 samples (H3K36me3, H3K4me1, H3K4me3, H3K79me2, H4K20me1 and H3K9ac) | ||
TFs indentified by ChIP-seq: | 761 | TF samples: | 7,734 |
TFs sources: | Cistrome, ChIP-Atlas, ENCODE, GTRD, ReMap |
ATAC regions: | 1) 1,051,532 from TCGA; 2) 3,181,274 from Cistrome | ||
DHSs number: | 62,154,007 (243 biosamples) | ||
ChIA-PET records: | 1) 130,139 from 4DGenome; 2) 552,387 from ENCODE | ||
IM-PET records: | 1,844,553 | Hi-C records: | 1,114,278 |
3C records: | 144 | 4C records: | 298 |
5C records: | 6,019 | ||