Variant report
| Variant | rs12579968 |
|---|---|
| Chromosome Location | chr12:66655603-66655604 |
| 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 | chr12:66648123..66650650-chr12:66653846..66656337,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:33)
| rs_ID | r2[population] |
|---|---|
| rs11176100 | 0.80[EUR][1000 genomes] |
| rs11176102 | 0.95[ASN][1000 genomes] |
| rs11176103 | 0.95[ASN][1000 genomes] |
| rs11176104 | 0.95[ASN][1000 genomes] |
| rs11176106 | 0.95[EUR][1000 genomes] |
| rs11176107 | 0.95[EUR][1000 genomes] |
| rs11176109 | 0.89[EUR][1000 genomes] |
| rs11176111 | 0.93[ASN][1000 genomes] |
| rs11176112 | 0.91[ASN][1000 genomes] |
| rs11176114 | 0.92[ASN][1000 genomes] |
| rs11541076 | 0.96[ASN][1000 genomes] |
| rs12300494 | 0.95[ASN][1000 genomes] |
| rs12300976 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12306996 | 0.93[ASN][1000 genomes] |
| rs12307002 | 0.95[ASN][1000 genomes] |
| rs12307857 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12308374 | 0.95[ASN][1000 genomes] |
| rs12314623 | 0.95[ASN][1000 genomes] |
| rs12320275 | 0.95[ASN][1000 genomes] |
| rs12320290 | 0.95[ASN][1000 genomes] |
| rs12320341 | 0.95[ASN][1000 genomes] |
| rs12322090 | 0.95[ASN][1000 genomes] |
| rs1436848 | 0.95[ASN][1000 genomes] |
| rs17102269 | 0.93[ASN][1000 genomes] |
| rs2082994 | 0.93[ASN][1000 genomes] |
| rs34776697 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57747494 | 0.93[ASN][1000 genomes] |
| rs7296857 | 0.95[EUR][1000 genomes] |
| rs903585 | 0.91[ASN][1000 genomes] |
| rs9971828 | 0.93[ASN][1000 genomes] |
| rs9971830 | 0.93[ASN][1000 genomes] |
| rs9971831 | 0.93[ASN][1000 genomes] |
| rs9971850 | 0.93[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 | nsv1052503 | chr12:66293898-67269495 | Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
| 2 | nsv541515 | chr12:66293898-67269495 | Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 51 gene(s) | inside rSNPs | diseases |
| 3 | nsv899216 | chr12:66563835-66716844 | Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:66646000-66662000 | Weak transcription | Primary hematopoietic stem cells | blood |
| 2 | chr12:66650800-66663400 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr12:66655600-66655800 | Enhancers | Primary T regulatory cells fromperipheralblood | blood |
