Variant report
| Variant | rs11678461 |
|---|---|
| Chromosome Location | chr2:55010099-55010100 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:55008139..55011075-chr2:55013927..55016853,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs11125544 | 0.96[ASN][1000 genomes] |
| rs11683128 | 0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11690558 | 0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs11691922 | 0.92[ASN][1000 genomes] |
| rs11891165 | 0.89[ASN][1000 genomes] |
| rs11897031 | 0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs11899655 | 0.97[ASN][1000 genomes] |
| rs11901245 | 0.96[ASN][1000 genomes] |
| rs12613164 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12622172 | 0.88[ASN][1000 genomes] |
| rs17046310 | 0.86[AFR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17046312 | 0.83[AFR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17521852 | 0.97[ASN][1000 genomes] |
| rs35559436 | 0.81[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs56320255 | 0.92[ASN][1000 genomes] |
| rs58350716 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6709473 | 0.99[AFR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6713115 | 0.98[ASN][1000 genomes] |
| rs6761960 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs72915588 | 0.96[ASN][1000 genomes] |
| rs72917512 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs72917514 | 0.98[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 | esv33638 | chr2:54765256-55109455 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv1005449 | chr2:54938633-55129503 | Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | esv1844855 | chr2:54987215-55012202 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | esv1844727 | chr2:54999712-55084583 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv870295 | chr2:55008613-55065985 | Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:55009800-55010200 | Enhancers | Primary B cells from peripheral blood | blood |
