Variant report
| Variant | rs17123135 |
|---|---|
| Chromosome Location | chr12:48936238-48936239 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48935790..48936824-chr12:49011913..49012916,27 | K562 | blood: | |
| 2 | chr12:48936113..48936998-chr12:49012151..49012777,3 | MCF-7 | breast: | |
| 3 | chr12:48934748..48937258-chr12:49020074..49022107,2 | K562 | blood: | |
| 4 | chr12:48935680..48937116-chr12:49011674..49012886,17 | MCF-7 | breast: | |
| 5 | chr12:48935919..48936970-chr12:49189329..49190246,4 | K562 | blood: | |
| 6 | chr12:48935776..48936689-chr12:49189357..49190185,2 | MCF-7 | breast: | |
| 7 | chr12:48934973..48936541-chr12:49010116..49012626,2 | MCF-7 | breast: | |
| 8 | chr12:48935860..48936459-chr12:49189641..49190580,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224709 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:6)
| rs_ID | r2[population] |
|---|---|
| rs11835640 | 0.83[AMR][1000 genomes] |
| rs57022528 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs57809090 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59679338 | 1.00[EUR][1000 genomes] |
| rs60756250 | 0.83[AMR][1000 genomes] |
| rs61227501 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 2 | nsv1047600 | chr12:48927514-48954225 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1048307 | chr12:48927514-48958949 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
