Variant report
| Variant | rs12297255 |
|---|---|
| Chromosome Location | chr12:74786054-74786055 |
| allele | A/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:74780034..74781968-chr12:74784353..74786746,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs11179992 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11179997 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs11180001 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12302817 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12305113 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12306390 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12313964 | 0.87[AFR][1000 genomes] |
| rs12578377 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1608077 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1608078 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs35750153 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4267148 | 0.83[ASN][1000 genomes] |
| rs60261359 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs60385205 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs61521825 | 0.81[EUR][1000 genomes] |
| rs6582211 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs7302983 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs73350831 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs74105240 | 0.81[EUR][1000 genomes] |
| rs7964864 | 0.84[CHB][hapmap];1.00[JPT][hapmap] |
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 | nsv1039468 | chr12:74080586-75000246 | Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv428595 | chr12:74679884-74858160 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv1052996 | chr12:74710909-74891621 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | nsv541540 | chr12:74710909-74891621 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 5 | nsv559413 | chr12:74754590-74924819 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:74784600-74786600 | Weak transcription | A549 | lung |
