Variant report
| Variant | rs72755251 |
|---|---|
| Chromosome Location | chr1:241974553-241974554 |
| allele | A/G |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:241891853..241894125-chr1:241972340..241974868,2 | K562 | blood: | |
| 2 | chr1:241970555..241972246-chr1:241972959..241974560,2 | K562 | blood: | |
| 3 | chr1:241972366..241975039-chr1:241979342..241982449,3 | MCF-7 | breast: | |
| 4 | chr1:241973745..241976603-chr1:241996523..241998163,2 | K562 | blood: | |
| 5 | chr1:241880701..241882545-chr1:241973011..241975030,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs1017018 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12022825 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12038477 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12042255 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1418764 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1891566 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4428871 | 0.88[ASN][1000 genomes] |
| rs55865277 | 0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs59836392 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6429312 | 0.86[ASN][1000 genomes] |
| rs6429313 | 0.88[ASN][1000 genomes] |
| rs6429314 | 0.89[ASN][1000 genomes] |
| rs72755248 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7533622 | 0.89[ASN][1000 genomes] |
| rs9428515 | 0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs9428516 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9428520 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9428521 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9428524 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9428525 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9428527 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9428529 | 0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9428891 | 0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs9428892 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9428893 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9428894 | 0.85[AMR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9428898 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9428899 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs9428900 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9428901 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9428902 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs952084 | 0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv918034 | chr1:241072791-242005532 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 32 gene(s) | inside rSNPs | diseases |
| 2 | nsv997966 | chr1:241100739-242087629 | Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv1002214 | chr1:241458939-242099790 | Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 4 | nsv873368 | chr1:241533392-242195928 | Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
| 5 | nsv873372 | chr1:241690554-242438293 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 6 | nsv948409 | chr1:241830086-242489705 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 7 | nsv528015 | chr1:241865219-242070731 | Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 8 | nsv1008300 | chr1:241886514-242171611 | Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 9 | esv2762521 | chr1:241891040-242074222 | Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 10 | nsv873373 | chr1:241939069-242027500 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:241973400-241978600 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 2 | chr1:241974000-241974800 | Enhancers | K562 | blood |
| 3 | chr1:241974000-241975200 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |





