Variant report
| Variant | rs13271489 |
|---|---|
| Chromosome Location | chr8:9803712-9803713 |
| 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 | chr8:9803039..9805546-chr8:9809803..9812661,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs10087802 | 0.89[JPT][hapmap] |
| rs11775290 | 0.89[JPT][hapmap] |
| rs11786541 | 0.88[CEU][hapmap] |
| rs13264066 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17739113 | 1.00[JPT][hapmap] |
| rs17739179 | 1.00[JPT][hapmap] |
| rs2628140 | 1.00[JPT][hapmap] |
| rs483916 | 0.92[CEU][hapmap] |
| rs615632 | 0.87[ASN][1000 genomes] |
| rs728878 | 1.00[JPT][hapmap] |
| rs7812741 | 1.00[JPT][hapmap] |
| rs814405 | 1.00[JPT][hapmap] |
| rs956824 | 0.89[JPT][hapmap] |
| rs9650622 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530864 | chr8:9097498-9914548 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv1023834 | chr8:9798072-9904788 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs13271489 | C8orf13 | Cis_chr | lymphoblastoid | RTeQTL |
| rs13271489 | C8orf5 | Cis_chr | lymphoblastoid | RTeQTL |
| rs13271489 | BLK | Cis_chr | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:9801800-9803800 | Enhancers | Fetal Brain Male | brain |
