Variant report
| Variant | rs1496348 |
|---|---|
| Chromosome Location | chr5:128190750-128190751 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:128189615..128191747-chr8:1711337..1714179,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000253982 | Chromatin interaction |
| ENSG00000182372 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10058979 | 0.82[EUR][1000 genomes] |
| rs10058982 | 0.82[EUR][1000 genomes] |
| rs1035407 | 0.84[EUR][1000 genomes] |
| rs10520013 | 0.94[YRI][hapmap] |
| rs1118881 | 0.83[EUR][1000 genomes] |
| rs12523161 | 0.94[YRI][hapmap];0.83[AFR][1000 genomes] |
| rs1345608 | 0.84[EUR][1000 genomes] |
| rs1422458 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17766880 | 0.83[YRI][hapmap] |
| rs1988891 | 0.80[EUR][1000 genomes] |
| rs2012809 | 0.85[EUR][1000 genomes] |
| rs2106977 | 0.84[EUR][1000 genomes] |
| rs2310809 | 0.82[EUR][1000 genomes] |
| rs7700634 | 0.84[EUR][1000 genomes] |
| rs7713910 | 0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9327495 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs976784 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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 | nsv599699 | chr5:128172808-128259451 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv462443 | chr5:128172808-128298437 | Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv599700 | chr5:128172808-128298437 | Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:128190600-128191800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
