Variant report
| Variant | rs7734893 |
|---|---|
| Chromosome Location | chr5:79604678-79604679 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:8)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:8 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | YY1 | chr5:79604364-79604717 | H1-hESC | embryonic stem cell: | n/a | chr5:79604548-79604560 |
| 2 | MAX | chr5:79604350-79604758 | K562 | blood: | n/a | n/a |
| 3 | YY1 | chr5:79604432-79604764 | K562 | blood: | n/a | chr5:79604548-79604560 |
| 4 | MYC | chr5:79604518-79604718 | K562 | blood: | n/a | n/a |
| 5 | YY1 | chr5:79604378-79604727 | K562 | blood: | n/a | chr5:79604548-79604560 |
| 6 | YY1 | chr5:79604357-79604741 | H1-hESC | embryonic stem cell: | n/a | chr5:79604548-79604560 |
| 7 | CTCF | chr5:79604640-79604790 | GM12868 | blood: | n/a | n/a |
| 8 | MYC | chr5:79604426-79604718 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:79387918..79390143-chr5:79603120..79605214,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000251828 | TF binding region |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10040789 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10040794 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10056190 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs10805935 | 0.81[ASN][1000 genomes] |
| rs10942920 | 0.93[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12654082 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs12655069 | 0.89[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1500138 | 0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2112151 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2161093 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4286649 | 0.89[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs4478300 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4703808 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4703809 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs4704661 | 0.80[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4704662 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs59393042 | 0.92[ASN][1000 genomes] |
| rs6453514 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6859753 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs6897248 | 0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7720696 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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 | 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 |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:79598800-79605400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr5:79604400-79604800 | Active TSS | Spleen | Spleen |
