Variant report
| Variant | rs72999787 |
|---|---|
| Chromosome Location | chr2:134721532-134721533 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr17:41462297..41467573-chr2:134721136..134722636,5 | K562 | blood: | |
| 2 | chr17:41398946..41402239-chr2:134721116..134722636,4 | K562 | blood: | |
| 3 | chr17:41398368..41401608-chr2:134721116..134722636,3 | K562 | blood: | |
| 4 | chr2:134721249..134724642-chr2:134730821..134734664,4 | MCF-7 | breast: | |
| 5 | chr17:41380604..41383573-chr2:134721136..134722636,3 | K562 | blood: | |
| 6 | chr17:41462293..41463812-chr2:134721136..134722636,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000236383 | Chromatin interaction |
| ENSG00000188825 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs13424416 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs16829423 | 1.00[EUR][1000 genomes] |
| rs16829506 | 1.00[EUR][1000 genomes] |
| rs16829743 | 1.00[EUR][1000 genomes] |
| rs16829792 | 1.00[EUR][1000 genomes] |
| rs16829808 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57028673 | 1.00[EUR][1000 genomes] |
| rs57898906 | 1.00[EUR][1000 genomes] |
| rs59601058 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60573351 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6745294 | 1.00[EUR][1000 genomes] |
| rs6757963 | 1.00[EUR][1000 genomes] |
| rs72999768 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72999775 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72999782 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72999793 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73007661 | 1.00[EUR][1000 genomes] |
| rs73957243 | 1.00[EUR][1000 genomes] |
| rs7592843 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1006101 | chr2:134263288-134973917 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 14 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:134721400-134726800 | Enhancers | Dnd41 | blood |
