Variant report
| Variant | rs12300165 |
|---|---|
| Chromosome Location | chr12:48885175-48885176 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48875260..48877080-chr12:48883909..48886028,2 | K562 | blood: | |
| 2 | chr12:48880500..48882865-chr12:48883478..48886344,3 | K562 | blood: | |
| 3 | chr12:48877425..48880282-chr12:48884726..48886278,2 | MCF-7 | breast: | |
| 4 | chr12:48882871..48884702-chr12:48885100..48887755,2 | K562 | blood: | |
| 5 | chr12:48880029..48882865-chr12:48884102..48887272,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000240443 | Chromatin interaction |
| ENSG00000177627 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs11168571 | 1.00[EUR][1000 genomes] |
| rs11168583 | 1.00[EUR][1000 genomes] |
| rs11168585 | 1.00[EUR][1000 genomes] |
| rs11168587 | 1.00[EUR][1000 genomes] |
| rs11168603 | 0.87[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11168610 | 1.00[EUR][1000 genomes] |
| rs11168626 | 1.00[EUR][1000 genomes] |
| rs11503892 | 1.00[EUR][1000 genomes] |
| rs11534 | 1.00[EUR][1000 genomes] |
| rs11830164 | 1.00[EUR][1000 genomes] |
| rs11832320 | 1.00[EUR][1000 genomes] |
| rs11833210 | 1.00[EUR][1000 genomes] |
| rs11833394 | 1.00[EUR][1000 genomes] |
| rs11833669 | 1.00[EUR][1000 genomes] |
| rs11834377 | 1.00[EUR][1000 genomes] |
| rs11837337 | 1.00[EUR][1000 genomes] |
| rs11838121 | 1.00[EUR][1000 genomes] |
| rs11838289 | 1.00[EUR][1000 genomes] |
| rs12304826 | 1.00[EUR][1000 genomes] |
| rs12305150 | 1.00[EUR][1000 genomes] |
| rs12306781 | 1.00[EUR][1000 genomes] |
| rs12307016 | 1.00[EUR][1000 genomes] |
| rs28706194 | 1.00[EUR][1000 genomes] |
| rs28892442 | 1.00[EUR][1000 genomes] |
| rs36119652 | 1.00[EUR][1000 genomes] |
| rs55956587 | 1.00[EUR][1000 genomes] |
| rs56179964 | 1.00[EUR][1000 genomes] |
| rs57337154 | 1.00[EUR][1000 genomes] |
| rs57658152 | 1.00[EUR][1000 genomes] |
| rs59304927 | 1.00[EUR][1000 genomes] |
| rs59708884 | 1.00[EUR][1000 genomes] |
| rs7315319 | 1.00[EUR][1000 genomes] |
| rs73296825 | 1.00[EUR][1000 genomes] |
| rs74088131 | 1.00[EUR][1000 genomes] |
| rs74088137 | 1.00[EUR][1000 genomes] |
| rs74089357 | 1.00[EUR][1000 genomes] |
| rs74089364 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | nsv975416 | chr12:48882416-48893049 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48883800-48885200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
