Variant report
| Variant | rs499538 |
|---|---|
| Chromosome Location | chr12:10074548-10074549 |
| 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 | chr12:10074227..10076810-chr12:10077015..10079502,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs547389 | 0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs580150 | 0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs580960 | 0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs599970 | 0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs619039 | 0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs620463 | 0.93[ASN][1000 genomes] |
| rs620855 | 0.91[ASN][1000 genomes] |
| rs644944 | 0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs648472 | 0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs663679 | 0.93[ASN][1000 genomes] |
| rs665371 | 0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs666756 | 0.95[ASN][1000 genomes] |
| rs686394 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs688577 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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 | nsv1044587 | chr12:10029514-10123414 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv523050 | chr12:10031880-10124373 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 3 | nsv898755 | chr12:10069302-10186284 | Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:10066200-10078400 | Weak transcription | Pancreas | Pancrea |
