Variant report
| Variant | rs2485901 |
|---|---|
| Chromosome Location | chr1:210370761-210370762 |
| allele | G/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:210369104..210372141-chr1:210373881..210375833,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs12133399 | 0.83[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs12134437 | 0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1361182 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1361183 | 0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1933474 | 0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2245526 | 0.84[YRI][hapmap] |
| rs2485903 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2487902 | 0.82[YRI][hapmap] |
| rs2487911 | 0.81[MKK][hapmap] |
| rs2494167 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2494174 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2494177 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34573048 | 0.89[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs4844958 | 0.90[EUR][1000 genomes] |
| rs72743441 | 0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs815357 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs845464 | 0.80[YRI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1014034 | chr1:209759648-210501731 | Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2485901 | DYRK3 | cis | parietal | SCAN |
| rs2485901 | G0S2 | cis | parietal | SCAN |
| rs2485901 | LOC148696 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:210369400-210375400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
