Variant report
| Variant | rs61730202 |
|---|---|
| Chromosome Location | chr12:124352505-124352506 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:124349873..124352616-chr12:124471983..124473527,2 | MCF-7 | breast: | |
| 2 | chr12:124351615..124353844-chr12:124456020..124457584,2 | MCF-7 | breast: | |
| 3 | chr12:124351595..124353635-chr12:124356736..124359144,2 | K562 | blood: | |
| 4 | chr12:124344617..124346181-chr12:124350078..124352593,2 | K562 | blood: | |
| 5 | chr12:124350568..124353635-chr12:124356736..124359633,3 | K562 | blood: | |
| 6 | chr12:124332831..124334511-chr12:124351979..124354225,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000119242 | Chromatin interaction |
| ENSG00000270095 | Chromatin interaction |
| ENSG00000179195 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs11833681 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11835416 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11836598 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs56025259 | 1.00[EUR][1000 genomes] |
| rs56096831 | 1.00[EUR][1000 genomes] |
| rs57024764 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57861885 | 1.00[EUR][1000 genomes] |
| rs58292766 | 1.00[EUR][1000 genomes] |
| rs59107032 | 1.00[EUR][1000 genomes] |
| rs59540041 | 1.00[EUR][1000 genomes] |
| rs59689888 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60422087 | 1.00[EUR][1000 genomes] |
| rs60509888 | 1.00[EUR][1000 genomes] |
| rs60571579 | 1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60654678 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60890562 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61174884 | 1.00[EUR][1000 genomes] |
| rs61231375 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61735933 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7134843 | 0.96[AFR][1000 genomes] |
| rs7135932 | 1.00[EUR][1000 genomes] |
| rs7296360 | 0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73409432 | 1.00[EUR][1000 genomes] |
| rs73420341 | 1.00[EUR][1000 genomes] |
| rs73420349 | 1.00[EUR][1000 genomes] |
| rs73420352 | 1.00[EUR][1000 genomes] |
| rs7962743 | 1.00[EUR][1000 genomes] |
| rs7962913 | 1.00[EUR][1000 genomes] |
| rs7973463 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv498024 | chr12:123994372-124459856 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:124331400-124352800 | Weak transcription | Fetal Brain Female | brain |
| 2 | chr12:124352200-124354200 | Enhancers | Fetal Brain Male | brain |
