Variant report
| Variant | rs612241 |
|---|---|
| Chromosome Location | chr18:40441714-40441715 |
| 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 | chr18:40440814..40443148-chr18:40445751..40448526,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:27)
| rs_ID | r2[population] |
|---|---|
| rs1789212 | 1.00[AMR][1000 genomes] |
| rs1790567 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2622327 | 0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2642798 | 0.83[AFR][1000 genomes] |
| rs474323 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs480519 | 0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs488727 | 1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs495065 | 1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs511729 | 0.86[YRI][hapmap] |
| rs522755 | 1.00[AMR][1000 genomes] |
| rs565932 | 1.00[AMR][1000 genomes] |
| rs601707 | 0.88[YRI][hapmap];0.85[AFR][1000 genomes] |
| rs607455 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs624586 | 1.00[AMR][1000 genomes] |
| rs632475 | 1.00[AMR][1000 genomes] |
| rs647925 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs653863 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs659129 | 1.00[YRI][hapmap];0.97[AFR][1000 genomes] |
| rs662508 | 0.88[YRI][hapmap] |
| rs663446 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs670649 | 0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs674340 | 1.00[YRI][hapmap];0.97[AFR][1000 genomes] |
| rs684010 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73486762 | 0.83[AFR][1000 genomes] |
| rs73951755 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73951761 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73951766 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
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 | nsv1056794 | chr18:40197837-40688514 | Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv2269 | chr18:40430930-40475718 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv909574 | chr18:40440609-40488279 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv909575 | chr18:40440609-40493500 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:40436600-40443600 | Weak transcription | Fetal Intestine Large | intestine |
