Variant report
| Variant | rs12654082 |
|---|---|
| Chromosome Location | chr5:79612487-79612488 |
| allele | C/T |
| 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 | chr5:79549488..79552187-chr5:79612065..79613883,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000164300 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10056190 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs10059140 | 0.89[CEU][hapmap] |
| rs10062770 | 1.00[JPT][hapmap] |
| rs10942920 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes] |
| rs12655069 | 0.80[AFR][1000 genomes] |
| rs1500138 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1862136 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs2216548 | 0.85[CEU][hapmap];1.00[JPT][hapmap] |
| rs4286649 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs4478300 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4703808 | 0.81[ASN][1000 genomes] |
| rs4703809 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs6453514 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs6859753 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs6866850 | 0.83[YRI][hapmap] |
| rs6897248 | 0.84[AFR][1000 genomes] |
| rs7718110 | 1.00[JPT][hapmap] |
| rs7720696 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs7722090 | 1.00[JPT][hapmap] |
| rs7734893 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs7735071 | 1.00[JPT][hapmap] |
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 | nsv948807 | chr5:79549207-79805765 | Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| 2 | nsv518480 | chr5:79586085-79748382 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv980690 | chr5:79591958-79614381 | Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
