Variant report
| Variant | rs12313957 |
|---|---|
| Chromosome Location | chr12:45944162-45944163 |
| allele | C/G |
| 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 | chr12:45942458..45944629-chr12:45945848..45948154,2 | K562 | blood: | |
| 2 | chr12:45939862..45941982-chr12:45942145..45944369,2 | K562 | blood: | |
| 3 | chr12:45943439..45945382-chr12:46120675..46122919,3 | MCF-7 | breast: | |
| 4 | chr12:45941297..45944696-chr12:46119825..46122754,3 | K562 | blood: | |
| 5 | chr12:45932018..45945296-chr12:46116937..46125620,30 | MCF-7 | breast: | |
| 6 | chr12:45937645..45942060-chr12:45942145..45945791,6 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000273015 | Chromatin interaction |
| ENSG00000189079 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs11182985 | 1.00[EUR][1000 genomes] |
| rs11183020 | 1.00[EUR][1000 genomes] |
| rs11183108 | 1.00[EUR][1000 genomes] |
| rs11183109 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11183135 | 1.00[EUR][1000 genomes] |
| rs11183136 | 1.00[EUR][1000 genomes] |
| rs11183197 | 1.00[EUR][1000 genomes] |
| rs12298597 | 1.00[EUR][1000 genomes] |
| rs12298823 | 1.00[EUR][1000 genomes] |
| rs12299652 | 1.00[EUR][1000 genomes] |
| rs12299715 | 1.00[EUR][1000 genomes] |
| rs12301665 | 1.00[EUR][1000 genomes] |
| rs12302862 | 1.00[EUR][1000 genomes] |
| rs12303119 | 1.00[EUR][1000 genomes] |
| rs12312478 | 1.00[EUR][1000 genomes] |
| rs12313889 | 1.00[EUR][1000 genomes] |
| rs12316100 | 1.00[EUR][1000 genomes] |
| rs12318053 | 1.00[EUR][1000 genomes] |
| rs12318489 | 1.00[EUR][1000 genomes] |
| rs12319642 | 1.00[EUR][1000 genomes] |
| rs12321106 | 1.00[EUR][1000 genomes] |
| rs28583490 | 1.00[EUR][1000 genomes] |
| rs4522236 | 1.00[EUR][1000 genomes] |
| rs59027429 | 1.00[EUR][1000 genomes] |
| rs59340060 | 1.00[EUR][1000 genomes] |
| rs6582560 | 1.00[EUR][1000 genomes] |
| rs7132585 | 1.00[EUR][1000 genomes] |
| rs7315365 | 1.00[EUR][1000 genomes] |
| rs74081382 | 1.00[EUR][1000 genomes] |
| rs74081384 | 1.00[EUR][1000 genomes] |
| rs7964495 | 1.00[EUR][1000 genomes] |
| rs7977711 | 1.00[EUR][1000 genomes] |
| rs9804810 | 1.00[EUR][1000 genomes] |
| rs9804811 | 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 | nsv832395 | chr12:45841765-46039297 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv691 | chr12:45896295-45946455 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:45942600-45945200 | Weak transcription | Esophagus | oesophagus |
| 2 | chr12:45943600-45945200 | Weak transcription | Fetal Thymus | thymus |
| 3 | chr12:45943600-45945400 | Weak transcription | Thymus | Thymus |
