Variant report
| Variant | rs1987444 |
|---|---|
| Chromosome Location | chr8:122661339-122661340 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:122659004..122661963-chr8:122736236..122737876,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10086278 | 0.94[ASN][1000 genomes] |
| rs10102290 | 0.94[ASN][1000 genomes] |
| rs10112917 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17240435 | 0.81[ASN][1000 genomes] |
| rs17299925 | 0.81[ASN][1000 genomes] |
| rs17299960 | 0.81[ASN][1000 genomes] |
| rs17299987 | 0.81[ASN][1000 genomes] |
| rs28583171 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28613240 | 0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs28778395 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs3877935 | 0.82[ASN][1000 genomes] |
| rs56058829 | 0.82[ASN][1000 genomes] |
| rs56265932 | 0.82[ASN][1000 genomes] |
| rs61488251 | 0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs62526466 | 0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62526467 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6984839 | 0.94[ASN][1000 genomes] |
| rs7000634 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs73708513 | 0.82[ASN][1000 genomes] |
| rs7821080 | 0.88[ASN][1000 genomes] |
| rs7837322 | 0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1033501 | chr8:122436332-122758651 | Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv831446 | chr8:122535039-122711959 | Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 3 | esv1848372 | chr8:122653247-122716049 | Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:122656000-122661800 | Weak transcription | A549 | lung |
| 2 | chr8:122660200-122662200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
