Variant report
| Variant | rs12126024 |
|---|---|
| Chromosome Location | chr1:214769701-214769702 |
| allele | C/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 | chr1:214769122..214772968-chr1:214776078..214778762,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000117724 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs12121403 | 0.91[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2070064 | 0.92[CEU][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs335527 | 0.83[CEU][hapmap] |
| rs34721280 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs35993967 | 0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs3748697 | 0.83[CEU][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs3795521 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
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 | nsv1004475 | chr1:214763778-215013375 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 2 | esv3386666 | chr1:214769379-214771477 | Inactive region | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv988434 | chr1:214769403-214770531 | Inactive region | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
