Variant report
| Variant | rs12539680 |
|---|---|
| Chromosome Location | chr7:16559224-16559225 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:16556554..16559234-chr7:16561265..16563512,3 | K562 | blood: | |
| 2 | chr7:16499530..16502497-chr7:16557938..16560776,2 | K562 | blood: | |
| 3 | chr7:16557755..16560171-chr7:16565512..16568469,2 | K562 | blood: | |
| 4 | chr7:16558907..16560805-chr7:16603285..16605880,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000205858 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs10227505 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10235440 | 0.92[ASN][1000 genomes] |
| rs12670079 | 1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes] |
| rs6971334 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6974206 | 0.92[ASN][1000 genomes] |
| rs7807244 | 0.92[ASN][1000 genomes] |
| rs7807602 | 0.92[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 | nsv1016642 | chr7:15884061-16799788 | Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | nsv1034151 | chr7:16415497-16578081 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv887756 | chr7:16520193-16566391 | Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| 4 | nsv1028125 | chr7:16529160-16847225 | Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
