Variant report
| Variant | rs12371438 |
|---|---|
| Chromosome Location | chr12:30118220-30118221 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs10843564 | 1.00[ASN][1000 genomes] |
| rs10843565 | 1.00[ASN][1000 genomes] |
| rs10843569 | 1.00[ASN][1000 genomes] |
| rs10843572 | 1.00[ASN][1000 genomes] |
| rs11050554 | 1.00[ASN][1000 genomes] |
| rs11050555 | 1.00[ASN][1000 genomes] |
| rs11050557 | 1.00[ASN][1000 genomes] |
| rs12369668 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12369684 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2200271 | 1.00[ASN][1000 genomes] |
| rs28477317 | 1.00[ASN][1000 genomes] |
| rs9805076 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529328 | chr12:29692414-30246209 | Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | esv2758302 | chr12:30023167-30175232 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv2759889 | chr12:30023167-30175232 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv948495 | chr12:30090771-30344772 | ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv1042652 | chr12:30094830-30133320 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:30114400-30123200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
