Variant report
| Variant | rs28445653 |
|---|---|
| Chromosome Location | chr7:136395917-136395918 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EP300 | chr7:136394080-136396052 | SK-N-SH | brain: | n/a | chr7:136394378-136394392 chr7:136394379-136394393 chr7:136394385-136394399 chr7:136395629-136395643 |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:136395695..136397541-chr7:136398267..136400793,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| PSMC1P3 | TF binding region |
| ENSG00000231244 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10215129 | 0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10216139 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10235715 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10244209 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10249076 | 1.00[ASN][1000 genomes] |
| rs10254450 | 1.00[ASN][1000 genomes] |
| rs10268557 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10269811 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10275579 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10488626 | 1.00[ASN][1000 genomes] |
| rs1425157 | 1.00[ASN][1000 genomes] |
| rs17168743 | 1.00[ASN][1000 genomes] |
| rs28687373 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4433091 | 0.85[EUR][1000 genomes] |
| rs56349320 | 1.00[ASN][1000 genomes] |
| rs7778136 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7790740 | 1.00[ASN][1000 genomes] |
| rs7809833 | 1.00[ASN][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 | nsv518439 | chr7:136134265-136452082 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:136394000-136396200 | Enhancers | Fetal Heart | heart |
