Variant report
| Variant | rs67126923 |
|---|---|
| Chromosome Location | chr2:187644730-187644731 |
| 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 | chr2:187350757..187352430-chr2:187643644..187645920,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000065548 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs10164824 | 0.89[EUR][1000 genomes] |
| rs11679577 | 0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs11884199 | 0.94[EUR][1000 genomes] |
| rs17334471 | 1.00[ASN][1000 genomes] |
| rs4387745 | 0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs4589713 | 0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs55982967 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs56912937 | 0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs57030665 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs6728163 | 0.94[EUR][1000 genomes] |
| rs67298161 | 0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72907048 | 0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7600348 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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 | nsv428069 | chr2:187575692-187766209 | ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 4 gene(s) | inside rSNPs | diseases |
| 2 | esv3495864 | chr2:187633495-187686087 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv3495865 | chr2:187633495-187686087 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:187644200-187645600 | Weak transcription | Placenta | Placenta |
