Variant report
| Variant | rs10993323 |
|---|---|
| Chromosome Location | chr9:93158434-93158435 |
| allele | A/G |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs10761373 | 1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap] |
| rs10821391 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs10821396 | 0.89[EUR][1000 genomes] |
| rs10821397 | 0.88[EUR][1000 genomes] |
| rs10821399 | 0.88[EUR][1000 genomes] |
| rs10821403 | 0.87[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs10821443 | 1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap] |
| rs10821444 | 1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap] |
| rs10993310 | 0.87[ASN][1000 genomes] |
| rs10993468 | 1.00[CEU][hapmap];0.90[JPT][hapmap] |
| rs10993469 | 1.00[CEU][hapmap];0.90[JPT][hapmap] |
| rs12375952 | 0.84[EUR][1000 genomes] |
| rs1777035 | 0.82[JPT][hapmap] |
| rs2114349 | 0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2771080 | 0.82[JPT][hapmap] |
| rs2771081 | 0.82[JPT][hapmap] |
| rs3748185 | 0.91[CHB][hapmap];0.91[JPT][hapmap] |
| rs3748186 | 0.91[CHB][hapmap];0.91[JPT][hapmap] |
| rs3748187 | 0.91[CHB][hapmap];0.91[JPT][hapmap] |
| rs4744373 | 0.89[EUR][1000 genomes] |
| rs4744385 | 0.86[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4744396 | 0.82[EUR][1000 genomes] |
| rs6479595 | 1.00[CEU][hapmap];0.91[JPT][hapmap] |
| rs7870764 | 1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap] |
| rs9332454 | 1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][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 | nsv1041278 | chr9:92965701-93560454 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv482748 | chr9:93123377-93279526 | Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | nsv893565 | chr9:93130796-93392332 | Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10993323 | LOC440173 | cis | cerebellum | SCAN |
| rs10993323 | RP11-389K14.3 | cis | lung | GTEx |
| rs10993323 | DIRAS2 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr9:93156400-93159200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr9:93158400-93162800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
