Variant report
| Variant | rs2123637 |
|---|---|
| Chromosome Location | chr5:8013445-8013446 |
| allele | C/T |
| 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 | chr5:8011424..8014393-chr5:8015605..8017261,2 | K562 | blood: | |
| 2 | chr5:8005906..8008212-chr5:8012967..8015085,2 | K562 | blood: | |
| 3 | chr5:8008383..8010769-chr5:8012694..8014385,2 | K562 | blood: | |
| 4 | chr5:8012836..8015830-chr5:9202478..9204498,2 | K562 | blood: | |
| 5 | 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:17)
| rs_ID | r2[population] |
|---|---|
| rs11134279 | 0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11959696 | 0.90[ASN][1000 genomes] |
| rs12515155 | 0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12518826 | 0.90[ASN][1000 genomes] |
| rs1453367 | 0.90[ASN][1000 genomes] |
| rs17196623 | 0.91[ASN][1000 genomes] |
| rs17249634 | 0.90[ASN][1000 genomes] |
| rs17249829 | 0.91[ASN][1000 genomes] |
| rs1813374 | 0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2198441 | 0.90[ASN][1000 genomes] |
| rs2938245 | 0.89[ASN][1000 genomes] |
| rs2966955 | 0.98[ASN][1000 genomes] |
| rs55717826 | 0.90[ASN][1000 genomes] |
| rs6871559 | 0.92[ASN][1000 genomes] |
| rs7700929 | 0.90[ASN][1000 genomes] |
| rs870456 | 0.86[ASN][1000 genomes] |
| rs982475 | 0.86[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 | esv1815664 | chr5:8011811-8019413 | ZNF genes & repeats Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | esv17801 | chr5:8013215-8024076 | Enhancers | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:8011800-8015400 | Enhancers | K562 | blood |
