Variant report
| Variant | rs6746051 |
|---|---|
| Chromosome Location | chr2:172777000-172777001 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:172772649..172775409-chr2:172776945..172778838,2 | K562 | blood: | |
| 2 | chr2:172749328..172751742-chr2:172775594..172779310,3 | MCF-7 | breast: | |
| 3 | chr2:172776261..172781039-chr2:172946394..172953961,9 | K562 | blood: | |
| 4 | chr2:172767380..172770009-chr2:172775350..172777979,2 | MCF-7 | breast: | |
| 5 | chr2:172776047..172778713-chr2:172948688..172950823,3 | MCF-7 | breast: | |
| 6 | chr2:172544464..172546143-chr2:172776960..172779046,3 | K562 | blood: | |
| 7 | chr2:172763886..172766598-chr2:172776885..172778453,2 | MCF-7 | breast: | |
| 8 | chr2:172749065..172752809-chr2:172776821..172780584,7 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| HAT1 | TF binding region |
| ENSG00000115840 | Chromatin interaction |
| ENSG00000144355 | Chromatin interaction |
| ENSG00000077380 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs13385135 | 0.80[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs1515813 | 1.00[AMR][1000 genomes] |
| rs16859913 | 1.00[ASN][1000 genomes] |
| rs312923 | 1.00[AMR][1000 genomes] |
| rs4668408 | 1.00[AMR][1000 genomes] |
| rs4668409 | 1.00[AMR][1000 genomes] |
| rs61384579 | 1.00[AMR][1000 genomes] |
| rs73976508 | 1.00[AMR][1000 genomes] |
| rs73976515 | 1.00[AMR][1000 genomes] |
| rs73976519 | 1.00[AMR][1000 genomes] |
| rs73976541 | 1.00[AMR][1000 genomes] |
| rs73976543 | 1.00[AMR][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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:172777000-172778600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
