Variant report
| Variant | rs6490214 |
|---|---|
| Chromosome Location | chr12:119275498-119275499 |
| allele | A/G |
| 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 | chr12:119117331..119119543-chr12:119272928..119275663,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs2698086 | 0.87[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap] |
| rs2698089 | 0.87[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap] |
| rs4767726 | 0.89[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6490213 | 1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv930978 | chr12:118866332-119450600 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 2 | esv2757516 | chr12:119229694-119294323 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv2759916 | chr12:119229694-119294323 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv826525 | chr12:119247463-119290732 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6490214 | C12orf43 | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
