Variant report
| Variant | rs4683586 |
|---|---|
| Chromosome Location | chr3:140942963-140942964 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | KAP1 | chr3:140942410-140943637 | K562 | blood: | n/a | n/a |
| 2 | SETDB1 | chr3:140942412-140942985 | U2OS | brain: | n/a | n/a |
| 3 | CBX3 | chr3:140942564-140942974 | HCT-116 | colon: | n/a | n/a |
| 4 | KAP1 | chr3:140942611-140942970 | U2OS | brain: | n/a | n/a |
| 5 | CBX3 | chr3:140942598-140942978 | K562 | blood: | n/a | n/a |
| 6 | TRIM28 | chr3:140942562-140943042 | K562 | blood: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ACPL2 | TF binding region |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs1026716 | 0.92[MEX][hapmap];0.86[TSI][hapmap] |
| rs10935425 | 0.82[TSI][hapmap] |
| rs10935427 | 0.84[TSI][hapmap] |
| rs12486843 | 0.85[EUR][1000 genomes] |
| rs13065438 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs13069904 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs1511371 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1511372 | 0.96[CEU][hapmap];0.85[EUR][1000 genomes] |
| rs1511373 | 0.85[EUR][1000 genomes] |
| rs1877222 | 0.85[EUR][1000 genomes] |
| rs2048459 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2291039 | 0.94[EUR][1000 genomes] |
| rs2311733 | 0.84[MEX][hapmap] |
| rs4683585 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6779870 | 0.92[CEU][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes] |
| rs7613113 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7652530 | 0.96[CEU][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes] |
| rs9819210 | 0.81[AMR][1000 genomes] |
| rs9875630 | 0.92[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv460870 | chr3:140938546-141005574 | Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv591892 | chr3:140938546-141005574 | Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4683586 | ACPL2 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:140937600-140946800 | Weak transcription | Thymus | Thymus |
| 2 | chr3:140940000-140949400 | Weak transcription | Fetal Heart | heart |
