Variant report
| Variant | rs62182430 |
|---|---|
| Chromosome Location | chr2:172772837-172772838 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:172747709..172751277-chr2:172768441..172772917,4 | K562 | blood: | |
| 2 | chr2:172772649..172775409-chr2:172776945..172778838,2 | K562 | blood: | |
| 3 | chr2:172769606..172772915-chr2:172967149..172970199,3 | K562 | blood: | |
| 4 | chr2:172764440..172768356-chr2:172769175..172774540,8 | K562 | blood: | |
| 5 | chr2:172763759..172768235-chr2:172769175..172774540,7 | K562 | blood: | |
| 6 | chr2:172771505..172775106-chr2:172777338..172780165,6 | K562 | blood: | |
| 7 | chr2:172770788..172773001-chr2:172780545..172783443,2 | K562 | blood: | |
| 8 | chr2:172772537..172775890-chr2:172777616..172781028,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115840 | Chromatin interaction |
| ENSG00000236651 | Chromatin interaction |
| ENSG00000128708 | Chromatin interaction |
| ENSG00000115844 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs17428076 | 0.84[AMR][1000 genomes] |
| rs55864623 | 0.84[AMR][1000 genomes] |
| rs56401580 | 0.94[ASN][1000 genomes] |
| rs62182429 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62182437 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62182444 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs62183762 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs62183765 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs72889094 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72890842 | 0.86[AMR][1000 genomes];0.88[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 | nsv875410 | chr2:172693780-172896587 | Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 2 | nsv875411 | chr2:172693780-172942448 | Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv536037 | chr2:172745597-172780616 | Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 11 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
