Variant report
| Variant | rs2393547 |
|---|---|
| Chromosome Location | chr12:119941886-119941887 |
| allele | A/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 |
| rs_ID | r2[population] |
|---|---|
| rs10774493 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs10849649 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11064769 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11064774 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12099460 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12306000 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12306360 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12306535 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12314123 | 1.00[ASN][1000 genomes] |
| rs12708370 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs12830127 | 1.00[ASN][1000 genomes] |
| rs2285401 | 1.00[CHB][hapmap] |
| rs34161061 | 1.00[ASN][1000 genomes] |
| rs35135358 | 1.00[ASN][1000 genomes] |
| rs35143406 | 1.00[ASN][1000 genomes] |
| rs35785729 | 1.00[ASN][1000 genomes] |
| rs4238064 | 1.00[ASN][1000 genomes] |
| rs4767814 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs4767816 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs7296648 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs7297109 | 1.00[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 | nsv1047036 | chr12:119477583-119992640 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | nsv916688 | chr12:119801814-120044407 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv832529 | chr12:119863378-120071646 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:119936000-119947400 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |





