Variant report
| Variant | rs2138697 |
|---|---|
| Chromosome Location | chr12:118089604-118089605 |
| allele | C/T |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs10444499 | 0.86[AFR][1000 genomes] |
| rs10735108 | 0.86[AFR][1000 genomes] |
| rs10735110 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes] |
| rs10735111 | 0.80[EUR][1000 genomes] |
| rs11068589 | 0.86[AFR][1000 genomes];0.80[EUR][1000 genomes] |
| rs1400593 | 0.86[AFR][1000 genomes] |
| rs1517196 | 0.86[AFR][1000 genomes] |
| rs1517201 | 0.86[AFR][1000 genomes] |
| rs1568154 | 0.83[EUR][1000 genomes] |
| rs1568160 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes] |
| rs1568161 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes] |
| rs1976755 | 0.83[EUR][1000 genomes] |
| rs2138698 | 1.00[AFR][1000 genomes];0.85[EUR][1000 genomes] |
| rs2393250 | 0.80[EUR][1000 genomes] |
| rs4767580 | 0.86[AFR][1000 genomes] |
| rs4767583 | 0.86[AFR][1000 genomes] |
| rs6490139 | 0.86[AFR][1000 genomes] |
| rs6490142 | 0.85[EUR][1000 genomes] |
| rs7298395 | 1.00[AFR][1000 genomes];0.84[EUR][1000 genomes] |
| rs7305557 | 0.86[AFR][1000 genomes];0.80[EUR][1000 genomes] |
| rs7957425 | 0.86[AFR][1000 genomes] |
| rs7980301 | 1.00[AFR][1000 genomes];0.83[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv832527 | chr12:117974007-118110244 | Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2138697 | NIP30 | trans | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:118089600-118090000 | ZNF genes & repeats | Pancreas | Pancrea |
