Variant report
| Variant | rs2178519 |
|---|---|
| Chromosome Location | chr2:76673155-76673156 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:18)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:18 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EBF1 | chr2:76673070-76673315 | GM12878 | blood: | n/a | n/a |
| 2 | SPI1 | chr2:76673065-76673465 | GM12878 | blood: | n/a | chr2:76673281-76673290 |
| 3 | RCOR1 | chr2:76673070-76673519 | GM12878 | blood: | n/a | n/a |
| 4 | EP300 | chr2:76673002-76673404 | GM12878 | blood: | n/a | chr2:76673285-76673294 chr2:76673281-76673295 |
| 5 | RFX5 | chr2:76673068-76673250 | GM12878 | blood: | n/a | chr2:76673146-76673154 |
| 6 | CHD2 | chr2:76672988-76673329 | GM12878 | blood: | n/a | n/a |
| 7 | BHLHE40 | chr2:76672988-76673427 | GM12878 | blood: | n/a | n/a |
| 8 | ZNF384 | chr2:76672935-76673611 | GM12878 | blood: | n/a | n/a |
| 9 | SPI1 | chr2:76673064-76673474 | HL-60 | blood: | n/a | chr2:76673281-76673290 |
| 10 | SMC3 | chr2:76673078-76673174 | GM12878 | blood: | n/a | n/a |
| 11 | MXI1 | chr2:76672816-76673388 | GM12878 | blood: | n/a | n/a |
| 12 | EP300 | chr2:76672934-76673394 | GM12878 | blood: | n/a | chr2:76673285-76673294 chr2:76673281-76673295 |
| 13 | CUX1 | chr2:76673045-76673334 | GM12878 | blood: | n/a | n/a |
| 14 | EP300 | chr2:76672996-76673449 | GM12878 | blood: | n/a | chr2:76673285-76673294 chr2:76673281-76673295 |
| 15 | TBP | chr2:76673096-76673280 | GM12878 | blood: | n/a | n/a |
| 16 | SPI1 | chr2:76672991-76673486 | HL-60 | blood: | n/a | chr2:76673281-76673290 |
| 17 | SPI1 | chr2:76673018-76673450 | GM12878 | blood: | n/a | chr2:76673281-76673290 |
| 18 | TBL1XR1 | chr2:76673032-76673279 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RN7SKP203 | TF binding region |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10496204 | 0.81[ASN][1000 genomes] |
| rs11126523 | 0.87[ASN][1000 genomes] |
| rs17012738 | 0.94[ASN][1000 genomes] |
| rs2178520 | 0.82[ASN][1000 genomes] |
| rs2860769 | 0.81[ASN][1000 genomes] |
| rs2860770 | 0.82[ASN][1000 genomes] |
| rs2860780 | 0.90[ASN][1000 genomes] |
| rs34258481 | 0.88[ASN][1000 genomes] |
| rs34763136 | 0.94[ASN][1000 genomes] |
| rs35412086 | 0.94[ASN][1000 genomes] |
| rs36005302 | 0.94[ASN][1000 genomes] |
| rs4306737 | 1.00[ASN][1000 genomes] |
| rs62166048 | 0.81[ASN][1000 genomes] |
| rs6738224 | 0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72809040 | 0.80[ASN][1000 genomes] |
| rs72809043 | 0.80[ASN][1000 genomes] |
| rs72809046 | 0.82[ASN][1000 genomes] |
| rs72809050 | 0.81[ASN][1000 genomes] |
| rs7424489 | 0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1006097 | chr2:76524248-76675427 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | esv2757809 | chr2:76541920-76705354 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv2759064 | chr2:76541920-76705354 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv874317 | chr2:76554077-76890567 | Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1013614 | chr2:76624220-76715121 | Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv582227 | chr2:76662404-76712789 | Enhancers Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:76659200-76677000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr2:76672800-76673800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
