Variant report
| Variant | rs17823808 |
|---|---|
| Chromosome Location | chr8:61548326-61548327 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOXA1 | chr8:61548132-61548425 | T-47D | breast: | n/a | chr8:61548246-61548261 |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:61544364..61547029-chr8:61547472..61549189,2 | K562 | blood: |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-CA8-5 | chr8:61545620-61548830 | ENSG00000228862 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000228862 | TF binding region |
| ENSG00000228862 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:1)
| rs_ID | r2[population] |
|---|---|
| rs11778315 | 0.85[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 | nsv917756 | chr8:60942299-61862796 | Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 74 gene(s) | inside rSNPs | diseases |
| 2 | nsv530383 | chr8:61431756-61605551 | Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 3 | nsv831335 | chr8:61497540-61688992 | Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
| 4 | nsv890945 | chr8:61522008-61707725 | Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17823808 | RAB2 | cis | lesional skin | skin_eQTL |
| rs17823808 | RAB2A | Cis_1M | lymphoblastoid | RTeQTL |
| rs17823808 | RAB2 | cis | normal skin | skin_eQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
