Variant report
| Variant | rs28370605 |
|---|---|
| Chromosome Location | chr12:40348239-40348240 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:93)
| rs_ID | r2[population] |
|---|---|
| rs12368785 | 1.00[JPT][hapmap] |
| rs17442206 | 1.00[JPT][hapmap] |
| rs17442297 | 1.00[JPT][hapmap] |
| rs17442742 | 1.00[JPT][hapmap] |
| rs17458093 | 1.00[JPT][hapmap] |
| rs17458121 | 1.00[JPT][hapmap] |
| rs17458202 | 1.00[JPT][hapmap] |
| rs17458396 | 1.00[JPT][hapmap] |
| rs17458417 | 1.00[JPT][hapmap] |
| rs17458487 | 1.00[JPT][hapmap] |
| rs17458528 | 1.00[JPT][hapmap] |
| rs17458836 | 1.00[JPT][hapmap] |
| rs17461337 | 1.00[JPT][hapmap] |
| rs17489170 | 1.00[JPT][hapmap] |
| rs17489218 | 1.00[JPT][hapmap] |
| rs17489225 | 1.00[JPT][hapmap] |
| rs17489246 | 1.00[JPT][hapmap] |
| rs17489253 | 1.00[JPT][hapmap] |
| rs17489267 | 1.00[JPT][hapmap] |
| rs17489365 | 1.00[JPT][hapmap] |
| rs17489410 | 1.00[JPT][hapmap] |
| rs17489417 | 1.00[JPT][hapmap] |
| rs17489466 | 1.00[JPT][hapmap] |
| rs17489501 | 1.00[JPT][hapmap] |
| rs17489583 | 1.00[JPT][hapmap] |
| rs17489590 | 1.00[JPT][hapmap] |
| rs17489597 | 1.00[JPT][hapmap] |
| rs17489638 | 1.00[JPT][hapmap] |
| rs17489869 | 1.00[JPT][hapmap] |
| rs17490006 | 1.00[JPT][hapmap] |
| rs17518057 | 1.00[JPT][hapmap] |
| rs17518071 | 1.00[JPT][hapmap] |
| rs17518141 | 1.00[JPT][hapmap] |
| rs17518148 | 1.00[JPT][hapmap] |
| rs17518155 | 1.00[JPT][hapmap] |
| rs17518204 | 1.00[JPT][hapmap] |
| rs17518232 | 1.00[JPT][hapmap] |
| rs17518343 | 1.00[JPT][hapmap] |
| rs17518413 | 1.00[JPT][hapmap] |
| rs17518420 | 1.00[JPT][hapmap] |
| rs17518532 | 1.00[JPT][hapmap] |
| rs17518910 | 1.00[JPT][hapmap] |
| rs17560365 | 0.89[EUR][1000 genomes] |
| rs2624249 | 0.93[EUR][1000 genomes] |
| rs28365178 | 1.00[JPT][hapmap] |
| rs28365191 | 1.00[JPT][hapmap] |
| rs28365682 | 1.00[JPT][hapmap] |
| rs28365690 | 1.00[JPT][hapmap] |
| rs28370601 | 1.00[JPT][hapmap] |
| rs28370608 | 1.00[JPT][hapmap] |
| rs28370616 | 1.00[JPT][hapmap] |
| rs28370643 | 1.00[JPT][hapmap] |
| rs28370649 | 1.00[JPT][hapmap] |
| rs28370652 | 1.00[JPT][hapmap] |
| rs28370655 | 1.00[JPT][hapmap] |
| rs28370658 | 1.00[JPT][hapmap] |
| rs28370665 | 1.00[JPT][hapmap] |
| rs28370670 | 1.00[JPT][hapmap] |
| rs28370672 | 1.00[JPT][hapmap] |
| rs28370673 | 1.00[JPT][hapmap] |
| rs28370682 | 1.00[JPT][hapmap] |
| rs28370686 | 1.00[JPT][hapmap] |
| rs28370690 | 1.00[JPT][hapmap] |
| rs28370692 | 1.00[JPT][hapmap] |
| rs28370696 | 1.00[JPT][hapmap] |
| rs28370700 | 1.00[JPT][hapmap] |
| rs28370707 | 1.00[JPT][hapmap] |
| rs28370718 | 1.00[JPT][hapmap] |
| rs28370731 | 1.00[JPT][hapmap] |
| rs28370737 | 1.00[JPT][hapmap] |
| rs28370744 | 1.00[JPT][hapmap] |
| rs28370750 | 1.00[JPT][hapmap] |
| rs28370751 | 1.00[JPT][hapmap] |
| rs28370755 | 1.00[JPT][hapmap] |
| rs28370764 | 1.00[JPT][hapmap] |
| rs28370765 | 1.00[JPT][hapmap] |
| rs28370767 | 1.00[JPT][hapmap] |
| rs28370768 | 1.00[JPT][hapmap] |
| rs28370771 | 1.00[JPT][hapmap] |
| rs28370772 | 1.00[JPT][hapmap] |
| rs28370776 | 1.00[JPT][hapmap] |
| rs28370779 | 1.00[JPT][hapmap] |
| rs28370787 | 1.00[JPT][hapmap] |
| rs28370793 | 1.00[JPT][hapmap] |
| rs28370796 | 1.00[JPT][hapmap] |
| rs28370800 | 1.00[JPT][hapmap] |
| rs28370806 | 1.00[JPT][hapmap] |
| rs28370808 | 1.00[JPT][hapmap] |
| rs28370813 | 1.00[JPT][hapmap] |
| rs28370818 | 1.00[JPT][hapmap] |
| rs28370823 | 1.00[JPT][hapmap] |
| rs28370826 | 1.00[JPT][hapmap] |
| rs4405389 | 1.00[JPT][hapmap] |
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 | nsv1046428 | chr12:40226283-40439843 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv541481 | chr12:40226283-40439843 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv1052202 | chr12:40322607-40406760 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription | Chromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs28370605 | BLNK | trans | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40337400-40350600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr12:40338000-40366000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 3 | chr12:40347800-40348400 | Enhancers | Fetal Kidney | kidney |
| 4 | chr12:40347800-40369800 | Weak transcription | Pancreas | Pancrea |
| 5 | chr12:40348200-40349000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
| 6 | chr12:40348200-40361400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
