Variant report
| Variant | rs2588350 |
|---|---|
| Chromosome Location | chr12:10953057-10953058 |
| 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 | chr12:10951582..10953191-chr12:10954611..10956191,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000121377 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs10772362 | 1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes] |
| rs1838344 | 0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1838345 | 0.95[EUR][1000 genomes] |
| rs1838346 | 0.92[ASN][1000 genomes] |
| rs3741845 | 0.92[ASN][1000 genomes] |
| rs615239 | 0.86[ASN][1000 genomes] |
| rs655046 | 0.83[AFR][1000 genomes];0.92[ASN][1000 genomes] |
| rs689118 | 0.80[ASN][1000 genomes] |
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 | nsv1049362 | chr12:10893573-11018850 | Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv898776 | chr12:10909412-11032045 | Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv1044642 | chr12:10910774-10954384 | Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | esv2474817 | chr12:10952542-10953752 | Inactive region | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv976762 | chr12:10952631-10955306 | Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:21)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2588350 | TAS2R9 | cis | parietal | SCAN |
| rs2588350 | TAS2R46 | cis | cerebellum | SCAN |
| rs2588350 | TAS2R50 | cis | cerebellum | SCAN |
| rs2588350 | TAS2R20 | cis | cerebellum | SCAN |
| rs2588350 | PRR4 | cis | Thyroid | GTEx |
| rs2588350 | TAS2R8 | cis | parietal | SCAN |
| rs2588350 | TAS2R10 | cis | parietal | SCAN |
| rs2588350 | PRR4 | cis | lymphoblastoid | seeQTL |
| rs2588350 | TAS2R31 | cis | cerebellum | SCAN |
| rs2588350 | TAS2R13 | cis | cerebellum | SCAN |
| rs2588350 | PRR4 | cis | cerebellum | SCAN |
| rs2588350 | TAS2R31 | cis | parietal | SCAN |
| rs2588350 | RP11-785H5.1 | cis | Thyroid | GTEx |
| rs2588350 | TAS2R14 | cis | cerebellum | SCAN |
| rs2588350 | PRH1 | cis | cerebellum | SCAN |
| rs2588350 | GPR162 | cis | parietal | SCAN |
| rs2588350 | TAS2R14 | cis | parietal | SCAN |
| rs2588350 | TAS2R19 | cis | cerebellum | SCAN |
| rs2588350 | TAS2R50 | cis | parietal | SCAN |
| rs2588350 | CLEC4D | cis | parietal | SCAN |
| rs2588350 | TAS2R19 | cis | parietal | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
