Variant report
Variant | rs10915891 |
---|---|
Chromosome Location | chr1:224048645-224048646 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | STAT3 | chr1:224048563-224048763 | MCF10A-Er-Src | breast: | n/a | n/a |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:224043695..224046031-chr1:224047315..224049831,3 | K562 | blood: | |
2 | chr1:224030773..224035996-chr1:224045738..224052159,10 | MCF-7 | breast: | |
3 | chr1:224048345..224051041-chr1:224057644..224060087,2 | K562 | blood: | |
4 | chr1:224042155..224044743-chr1:224047523..224049219,2 | MCF-7 | breast: | |
5 | chr1:224032237..224035602-chr1:224046110..224051630,7 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
PHBP11 | TF binding region |
ENSG00000227621 | Chromatin interaction |
ENSG00000143514 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10961 | 0.81[EUR][1000 genomes] |
rs1153948 | 0.81[EUR][1000 genomes] |
rs1415583 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1890120 | 0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs2045733 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2126387 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs3856162 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4653683 | 0.94[ASN][1000 genomes] |
rs57453172 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6658516 | 0.98[EUR][1000 genomes] |
rs6661430 | 0.97[EUR][1000 genomes] |
rs6682353 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs7517814 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7543815 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7547098 | 0.82[EUR][1000 genomes];0.94[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3361888 | chr1:223725597-224114846 | Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
2 | esv34082 | chr1:223851018-224144509 | Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
3 | nsv1008800 | chr1:223904653-224061032 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
4 | esv2757772 | chr1:223935220-224363163 | Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
5 | esv2759000 | chr1:223935220-224363163 | Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
6 | esv1793921 | chr1:224048131-224105965 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv945313 | chr1:224048561-224060636 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:224044800-224051800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr1:224048400-224052000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |