Variant report
| Variant | rs6868205 |
|---|---|
| Chromosome Location | chr5:75133380-75133381 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:13)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:13 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | SPI1 | chr5:75133363-75133524 | K562 | blood: | n/a | n/a |
| 2 | EBF1 | chr5:75133295-75133687 | GM12878 | blood: | n/a | chr5:75133525-75133536 chr5:75133474-75133485 |
| 3 | SPI1 | chr5:75133354-75133582 | GM12891 | blood: | n/a | n/a |
| 4 | RUNX3 | chr5:75133128-75133585 | GM12878 | blood: | n/a | n/a |
| 5 | RUNX3 | chr5:75133069-75133480 | GM12878 | blood: | n/a | n/a |
| 6 | ATF2 | chr5:75133129-75133647 | GM12878 | blood: | n/a | n/a |
| 7 | SPI1 | chr5:75133367-75133642 | HL-60 | blood: | n/a | n/a |
| 8 | SPI1 | chr5:75133316-75133609 | GM12878 | blood: | n/a | n/a |
| 9 | EP300 | chr5:75133246-75133602 | GM12878 | blood: | n/a | n/a |
| 10 | ZNF384 | chr5:75133301-75134078 | GM12878 | blood: | n/a | n/a |
| 11 | EP300 | chr5:75133245-75133594 | GM12878 | blood: | n/a | n/a |
| 12 | EBF1 | chr5:75133232-75133679 | GM12878 | blood: | n/a | chr5:75133525-75133536 chr5:75133474-75133485 |
| 13 | IKZF1 | chr5:75133307-75133654 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000251419 | TF binding region |
rSNPs within LD-proxies of this variant (count:6)
| rs_ID | r2[population] |
|---|---|
| rs10942740 | 1.00[GIH][hapmap] |
| rs11952534 | 1.00[GIH][hapmap] |
| rs16872710 | 1.00[GIH][hapmap] |
| rs6453170 | 0.81[YRI][hapmap] |
| rs6864480 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes] |
| rs7719387 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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 | nsv1027368 | chr5:74759999-75663712 | Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv518475 | chr5:74863041-75411804 | Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | esv1850196 | chr5:74890618-75138443 | Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv830353 | chr5:74961520-75152609 | Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 5 | nsv830354 | chr5:75074143-75259398 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6868205 | ITGAX | trans | lymphoblastoid | seeQTL |
| rs6868205 | METRNL | trans | lymphoblastoid | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:75133000-75133600 | Enhancers | Primary B cells from peripheral blood | blood |
