Variant report
| Variant | rs59516754 |
|---|---|
| Chromosome Location | chr2:55006150-55006151 |
| allele | C/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 | chr2:54994263..54996160-chr2:55006143..55008634,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10201670 | 0.87[ASN][1000 genomes] |
| rs13390196 | 0.83[ASN][1000 genomes] |
| rs13396649 | 0.94[ASN][1000 genomes] |
| rs13401661 | 0.86[ASN][1000 genomes] |
| rs13412839 | 0.86[ASN][1000 genomes] |
| rs13422751 | 0.86[EUR][1000 genomes] |
| rs13431107 | 0.84[ASN][1000 genomes] |
| rs17046283 | 0.86[ASN][1000 genomes] |
| rs17046292 | 0.95[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs171349 | 0.80[ASN][1000 genomes] |
| rs2033414 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2033415 | 0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4671974 | 0.88[ASN][1000 genomes] |
| rs4671976 | 0.96[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs62136877 | 0.88[ASN][1000 genomes] |
| rs6712305 | 0.87[ASN][1000 genomes] |
| rs7565441 | 0.86[ASN][1000 genomes] |
| rs868700 | 0.86[ASN][1000 genomes] |
| rs9711112 | 0.87[ASN][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 | esv33638 | chr2:54765256-55109455 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv1005449 | chr2:54938633-55129503 | Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | esv1844855 | chr2:54987215-55012202 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | esv1844727 | chr2:54999712-55084583 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:55003400-55006200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
