Variant report
| Variant | rs193454 |
|---|---|
| Chromosome Location | chr7:108314219-108314220 |
| 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 | chr7:108313082..108314966-chr7:108318504..108320031,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs12534347 | 0.88[EUR][1000 genomes] |
| rs12536143 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12539820 | 0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12705492 | 0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs13243000 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1544347 | 0.85[EUR][1000 genomes] |
| rs17156107 | 0.81[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs17350594 | 0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1964202 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs35307180 | 0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs35826348 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs36012065 | 0.84[EUR][1000 genomes] |
| rs40957 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6948908 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6949511 | 0.82[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv817371 | chr7:108199882-108649799 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
| 2 | nsv1023651 | chr7:108303048-108385180 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs193454 | THAP5 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:108314200-108314400 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
