Variant report
| Variant | rs12587885 |
|---|---|
| Chromosome Location | chr14:84703842-84703843 |
| allele | A/C |
| 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 | chr14:84698224..84700933-chr14:84701526..84704315,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs10498573 | 0.94[ASN][1000 genomes] |
| rs11159639 | 0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11159642 | 0.97[ASN][1000 genomes] |
| rs11159643 | 0.97[ASN][1000 genomes] |
| rs11627969 | 0.97[ASN][1000 genomes] |
| rs12431512 | 0.97[ASN][1000 genomes] |
| rs12431785 | 0.97[ASN][1000 genomes] |
| rs12431814 | 0.97[ASN][1000 genomes] |
| rs12436833 | 0.97[ASN][1000 genomes] |
| rs12587226 | 0.97[ASN][1000 genomes] |
| rs12587381 | 0.97[ASN][1000 genomes] |
| rs12587938 | 0.97[ASN][1000 genomes] |
| rs12587945 | 0.97[ASN][1000 genomes] |
| rs12588383 | 0.95[ASN][1000 genomes] |
| rs12589263 | 0.97[ASN][1000 genomes] |
| rs12590763 | 0.97[ASN][1000 genomes] |
| rs12880079 | 0.97[ASN][1000 genomes] |
| rs12880539 | 0.97[ASN][1000 genomes] |
| rs12880684 | 0.97[ASN][1000 genomes] |
| rs12893358 | 0.97[ASN][1000 genomes] |
| rs17705790 | 0.97[ASN][1000 genomes] |
| rs2372587 | 0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs34365118 | 0.97[ASN][1000 genomes] |
| rs34768743 | 0.97[ASN][1000 genomes] |
| rs35325259 | 0.97[ASN][1000 genomes] |
| rs35465761 | 0.97[ASN][1000 genomes] |
| rs35599611 | 0.97[ASN][1000 genomes] |
| rs36011380 | 0.97[ASN][1000 genomes] |
| rs4264327 | 0.99[ASN][1000 genomes] |
| rs4315286 | 0.97[ASN][1000 genomes] |
| rs4331274 | 0.97[ASN][1000 genomes] |
| rs4359364 | 0.97[ASN][1000 genomes] |
| rs4542588 | 0.97[ASN][1000 genomes] |
| rs4628891 | 0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4638505 | 0.97[ASN][1000 genomes] |
| rs4899848 | 0.97[ASN][1000 genomes] |
| rs61983264 | 0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv902160 | chr14:84694867-84730585 | Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 2 | nsv902161 | chr14:84699866-84769903 | Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12587885 | ELAC2 | trans | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:84703600-84705600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
