Variant report
| Variant | rs72718973 |
|---|---|
| Chromosome Location | chr5:7993089-7993090 |
| allele | C/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 | chr5:7990734..7993974-chr5:8011834..8015550,5 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs13167047 | 0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2089032 | 0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2089033 | 0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2102202 | 0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2102203 | 0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs28408519 | 0.81[EUR][1000 genomes] |
| rs28550512 | 0.80[EUR][1000 genomes] |
| rs28637903 | 0.81[EUR][1000 genomes] |
| rs35210138 | 0.88[ASN][1000 genomes] |
| rs4401546 | 0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs62356484 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6863183 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6863556 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6863763 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6864558 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6884620 | 0.82[EUR][1000 genomes] |
| rs72718974 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72718975 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7729780 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs7730131 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv916892 | chr5:7634377-8158890 | Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv533983 | chr5:7701457-8275379 | Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 3 | nsv597005 | chr5:7860404-8093077 | Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 4 | nsv968076 | chr5:7992622-7994266 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | esv3350816 | chr5:7992988-7993444 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:7991600-7996200 | Weak transcription | Spleen | Spleen |
| 2 | chr5:7993000-7993200 | Enhancers | Ovary | ovary |
