Variant report
| Variant | rs10957249 |
|---|---|
| Chromosome Location | chr8:63780245-63780246 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:4)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:4 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | PAX5 | chr8:63779961-63780379 | GM12878 | blood: | n/a | chr8:63780143-63780160 |
| 2 | PAX5 | chr8:63779992-63780304 | GM12878 | blood: | n/a | chr8:63780143-63780160 |
| 3 | PAX5 | chr8:63779999-63780270 | GM12878 | blood: | n/a | chr8:63780143-63780160 |
| 4 | RUNX3 | chr8:63779924-63780353 | GM12878 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253431 | TF binding region |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1017669 | 0.87[EUR][1000 genomes] |
| rs10808726 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12541223 | 0.87[EUR][1000 genomes] |
| rs13253399 | 0.93[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs13255612 | 0.93[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs13257884 | 0.87[EUR][1000 genomes] |
| rs13272107 | 0.88[EUR][1000 genomes] |
| rs13280971 | 0.87[EUR][1000 genomes] |
| rs16929838 | 0.89[EUR][1000 genomes] |
| rs28506994 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs34597813 | 0.93[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs4596652 | 0.87[EUR][1000 genomes] |
| rs55919106 | 0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs56266890 | 0.83[EUR][1000 genomes] |
| rs7000612 | 0.87[EUR][1000 genomes] |
| rs7831888 | 0.87[EUR][1000 genomes] |
| rs979263 | 0.87[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1018879 | chr8:63281724-63937632 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 2 | nsv831341 | chr8:63658694-63852213 | Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv1033527 | chr8:63673915-64073735 | Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv890962 | chr8:63708519-63812686 | Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:63777600-63781200 | Weak transcription | Fetal Brain Female | brain |
| 2 | chr8:63779800-63782000 | Enhancers | Cortex derived primary cultured neurospheres | brain |
