Variant report
| Variant | rs40918 |
|---|---|
| Chromosome Location | chr7:108184804-108184805 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 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 | chr7:108184554..108188738-chr7:108190088..108193231,5 | K562 | blood: | |
| 6 | chr7:108183772..108187836-chr7:108211121..108214718,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000128590 | Chromatin interaction |
| ENSG00000177683 | Chromatin interaction |
| ENSG00000135241 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10156002 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs10270723 | 0.85[EUR][1000 genomes] |
| rs1043615 | 0.85[EUR][1000 genomes] |
| rs17426315 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2041003 | 0.85[EUR][1000 genomes] |
| rs2072212 | 0.85[EUR][1000 genomes] |
| rs34668718 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs40911 | 0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs40913 | 0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs40916 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs40922 | 0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs40927 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs40929 | 0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs40930 | 0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs40933 | 0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes] |
| rs40937 | 0.95[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs40943 | 0.94[AMR][1000 genomes];0.89[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 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 | 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 |
|---|---|---|---|---|
| rs40918 | THAP5 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
