Variant report
| Variant | rs12676093 |
|---|---|
| Chromosome Location | chr8:9308725-9308726 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:15)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:15 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | NR3C1 | chr8:9308202-9308743 | A549 | lung: | n/a | n/a |
| 2 | FOXA1 | chr8:9308674-9309167 | HepG2 | liver: | n/a | n/a |
| 3 | POLR2A | chr8:9308280-9309005 | HepG2 | liver: | n/a | n/a |
| 4 | NFIC | chr8:9308719-9309224 | HepG2 | liver: | n/a | n/a |
| 5 | BHLHE40 | chr8:9308092-9309235 | HepG2 | liver: | n/a | n/a |
| 6 | SP1 | chr8:9308710-9309227 | HepG2 | liver: | n/a | n/a |
| 7 | ARID3A | chr8:9308180-9309361 | HepG2 | liver: | n/a | chr8:9309163-9309179 |
| 8 | MYBL2 | chr8:9308705-9309306 | HepG2 | liver: | n/a | n/a |
| 9 | RXRA | chr8:9308536-9309190 | HepG2 | liver: | n/a | n/a |
| 10 | MXI1 | chr8:9308476-9309264 | HepG2 | liver: | n/a | n/a |
| 11 | EP300 | chr8:9308210-9309276 | HepG2 | liver: | n/a | n/a |
| 12 | MAX | chr8:9308694-9308785 | HepG2 | liver: | n/a | n/a |
| 13 | MAX | chr8:9308477-9309253 | HepG2 | liver: | n/a | n/a |
| 14 | RCOR1 | chr8:9308234-9309019 | HepG2 | liver: | n/a | n/a |
| 15 | CEBPB | chr8:9308169-9308892 | HepG2 | liver: | n/a | chr8:9308281-9308294 chr8:9308700-9308711 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000249050 | TF binding region |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs10503383 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12680337 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12680899 | 1.00[EUR][1000 genomes] |
| rs17149988 | 1.00[CEU][hapmap];1.00[GIH][hapmap] |
| rs17150030 | 1.00[EUR][1000 genomes] |
| rs17150035 | 1.00[EUR][1000 genomes] |
| rs17150054 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes] |
| rs17150068 | 1.00[EUR][1000 genomes] |
| rs17150074 | 1.00[EUR][1000 genomes] |
| rs73527429 | 0.90[AFR][1000 genomes] |
| rs7464733 | 1.00[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv917117 | chr8:8621658-9313799 | Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
| 2 | nsv817373 | chr8:8857854-9361049 | Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 3 | nsv949434 | chr8:8993551-9318404 | Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
| 4 | 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 |
| 5 | nsv497927 | chr8:9097611-9544519 | Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 6 | nsv1030524 | chr8:9183482-9412833 | Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 7 | esv2764086 | chr8:9216584-9334601 | Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 8 | nsv1026506 | chr8:9258997-9338042 | Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 9 | nsv1027325 | chr8:9264405-9333207 | Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:9307000-9310800 | Weak transcription | Fetal Intestine Small | intestine |
| 2 | chr8:9308200-9309000 | Flanking Active TSS | Liver | Liver |
| 3 | chr8:9308600-9309000 | Flanking Active TSS | HepG2 | liver |
