Variant report
Variant | rs28558245 |
---|---|
Chromosome Location | chr7:56175923-56175924 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | GATA3 | chr7:56175481-56176013 | SH-SY5Y | brain: | n/a | n/a |
2 | GATA1 | chr7:56173024-56176382 | K562 | blood: | n/a | chr7:56174484-56174493 |
3 | TRIM28 | chr7:56174639-56175985 | K562 | blood: | n/a | n/a |
4 | EP300 | chr7:56173011-56176070 | K562 | blood: | n/a | chr7:56174629-56174639 chr7:56174748-56174762 chr7:56173887-56173900 chr7:56174352-56174359 |
5 | KAP1 | chr7:56174287-56176301 | K562 | blood: | n/a | n/a |
6 | CBX3 | chr7:56174781-56175968 | K562 | blood: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CHCHD2 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10265826 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs10274148 | 0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs10800 | 0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12536548 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12537948 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12668193 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12671494 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12673255 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs13438048 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2014042 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2242509 | 0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2270244 | 0.81[AFR][1000 genomes] |
rs3778867 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs3813505 | 0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4345511 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs4424212 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4427122 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4585698 | 0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs55940597 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs56355538 | 0.82[AFR][1000 genomes] |
rs58251663 | 0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs59723101 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6947671 | 0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6960348 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6970842 | 0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs6971804 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73140779 | 0.86[AFR][1000 genomes] |
rs73140793 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs73140794 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs766334 | 0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7793536 | 0.82[EUR][1000 genomes] |
rs7793614 | 0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2829874 | chr7:55382925-56369816 | Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 98 gene(s) | inside rSNPs | diseases |
2 | esv12412 | chr7:55619800-56385412 | Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 82 gene(s) | inside rSNPs | diseases |
3 | nsv949574 | chr7:55705566-56544711 | Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
4 | esv3446617 | chr7:55745934-56485903 | Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 81 gene(s) | inside rSNPs | diseases |
5 | esv2761334 | chr7:55823581-56424739 | Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 71 gene(s) | inside rSNPs | diseases |
6 | nsv1018806 | chr7:55844931-56383936 | Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 68 gene(s) | inside rSNPs | diseases |
7 | nsv538860 | chr7:55844931-56383936 | Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 68 gene(s) | inside rSNPs | diseases |
8 | nsv1034712 | chr7:56146885-56605592 | Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
9 | nsv538861 | chr7:56146885-56605592 | Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
10 | nsv526294 | chr7:56171489-56622630 | Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
11 | nsv1016771 | chr7:56174828-56643856 | Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
12 | nsv538862 | chr7:56174828-56643856 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:56174200-56183600 | Weak transcription | Gastric | stomach |
2 | chr7:56174400-56176200 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr7:56175000-56176000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
4 | chr7:56175200-56183400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
5 | chr7:56175600-56176000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |