Variant report
| Variant | rs40917 |
|---|---|
| Chromosome Location | chr7:108184497-108184498 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:108182320..108186636-chr7:108208498..108210540,3 | K562 | blood: | |
| 2 | chr7:108182320..108185203-chr7:108208498..108210540,2 | K562 | blood: | |
| 3 | chr7:108166267..108167916-chr7:108182807..108185600,2 | MCF-7 | breast: | |
| 4 | chr7:108164437..108170294-chr7:108182058..108185916,6 | K562 | blood: | |
| 5 | chr7:108183772..108187836-chr7:108211121..108214718,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000177683 | Chromatin interaction |
| ENSG00000128590 | Chromatin interaction |
| ENSG00000135241 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:6)
| rs_ID | r2[population] |
|---|---|
| rs10081203 | 0.81[AFR][1000 genomes] |
| rs10215273 | 0.82[YRI][hapmap] |
| rs10270011 | 0.89[AFR][1000 genomes] |
| rs10953575 | 0.81[AFR][1000 genomes] |
| rs1544517 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs40920 | 0.97[AFR][1000 genomes];1.00[AMR][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 | esv3348839 | chr7:107377311-108286538 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 91 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs40917 | THAP5 | cis | multi-tissue | Pritchard |
Chromatin state (count:0 , 50 per page) page:
| No data |
