Variant report
| Variant | rs13347073 |
|---|---|
| Chromosome Location | chr19:40074066-40074067 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:17)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:17 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | BATF | chr19:40073986-40074232 | GM12878 | blood: | n/a | n/a |
| 2 | ATF2 | chr19:40073859-40074305 | GM12878 | blood: | n/a | n/a |
| 3 | BCLAF1 | chr19:40073733-40074376 | GM12878 | blood: | n/a | n/a |
| 4 | MEF2A | chr19:40073826-40074388 | GM12878 | blood: | n/a | n/a |
| 5 | EP300 | chr19:40074061-40074195 | GM12878 | blood: | n/a | n/a |
| 6 | STAT5A | chr19:40073526-40074326 | GM12878 | blood: | n/a | chr19:40074201-40074209 chr19:40073650-40073662 chr19:40073629-40073641 |
| 7 | RUNX3 | chr19:40073505-40074364 | GM12878 | blood: | n/a | n/a |
| 8 | MTA3 | chr19:40073414-40074409 | GM12878 | blood: | n/a | n/a |
| 9 | NFATC1 | chr19:40073898-40074366 | GM12878 | blood: | n/a | n/a |
| 10 | FOXM1 | chr19:40073884-40074331 | GM12878 | blood: | n/a | n/a |
| 11 | NFIC | chr19:40073948-40074348 | GM12878 | blood: | n/a | n/a |
| 12 | RUNX3 | chr19:40073489-40074337 | GM12878 | blood: | n/a | n/a |
| 13 | ATF2 | chr19:40073482-40074495 | GM12878 | blood: | n/a | n/a |
| 14 | IRF4 | chr19:40073555-40074275 | GM12878 | blood: | n/a | n/a |
| 15 | CTCF | chr19:40073980-40074130 | GM12872 | blood: | n/a | n/a |
| 16 | BATF | chr19:40073529-40074339 | GM12878 | blood: | n/a | n/a |
| 17 | NFIC | chr19:40073588-40074473 | GM12878 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:40065219..40068575-chr19:40071242..40074424,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000269188 | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10401220 | 0.96[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs10404254 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10406418 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10409199 | 0.88[AFR][1000 genomes] |
| rs10411410 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10417116 | 0.96[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs10417553 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10418704 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10419137 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10421338 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs10425352 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61607345 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61705840 | 1.00[AMR][1000 genomes] |
| rs7260050 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs8110529 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs8113631 | 1.00[AFR][1000 genomes];1.00[AMR][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 | nsv1060251 | chr19:39982988-40099773 | Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv579509 | chr19:40004640-40133438 | Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 31 gene(s) | inside rSNPs | diseases |
| 3 | esv34120 | chr19:40044635-40131820 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:40073600-40074200 | Enhancers | Primary B cells from peripheral blood | blood |
| 2 | chr19:40073800-40074400 | Enhancers | GM12878-XiMat | blood |
