Variant report
| Variant | rs4975304 |
|---|---|
| Chromosome Location | chr4:130052612-130052613 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:6)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:6 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CBX3 | chr4:130052575-130052793 | K562 | blood: | n/a | n/a |
| 2 | KAP1 | chr4:130052541-130053028 | K562 | blood: | n/a | n/a |
| 3 | SETDB1 | chr4:130052472-130053055 | U2OS | brain: | n/a | n/a |
| 4 | CBX3 | chr4:130052504-130052848 | K562 | blood: | n/a | n/a |
| 5 | SP1 | chr4:130052610-130052979 | HepG2 | liver: | n/a | n/a |
| 6 | TRIM28 | chr4:130052476-130052829 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:130036050..130038012-chr4:130049891..130052657,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000251345 | TF binding region |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs12500557 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs12505207 | 0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12512846 | 0.86[ASN][1000 genomes] |
| rs17185550 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs17185620 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1877836 | 0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs35162842 | 0.87[ASN][1000 genomes] |
| rs4533782 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs4635829 | 0.85[ASN][1000 genomes] |
| rs4975302 | 0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs4975303 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs4975305 | 0.88[ASN][1000 genomes] |
| rs6838427 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs72685402 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs72687104 | 0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869258 | chr4:129191619-130138148 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 79 gene(s) | inside rSNPs | diseases |
| 2 | nsv534538 | chr4:129799138-130431688 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 3 | nsv879931 | chr4:129939775-130178102 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:130052400-130053800 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
