Variant report
| Variant | rs6904505 |
|---|---|
| Chromosome Location | chr6:73955930-73955931 |
| allele | C/G |
| 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 | 6:73955774-73958859..6:74078047-74099067 | Hela-S3 | cervix: | |
| 2 | 6:73955774-73958859..6:74099986-74112890 | Hela-S3 | cervix: | |
| 3 | 6:73955774-73958859..6:74062967-74076046 | GM12878 | blood: | |
| 4 | 6:73955774-73958859..6:74160392-74184826 | Hela-S3 | cervix: | |
| 5 | 6:73927031-73938730..6:73955774-73958859 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000203907 | Chromatin interaction |
| ENSG00000207023 | Chromatin interaction |
| ENSG00000203908 | Chromatin interaction |
| ENSG00000231332 | Chromatin interaction |
| ENSG00000238464 | Chromatin interaction |
| ENSG00000080007 | Chromatin interaction |
| ENSG00000256980 | Chromatin interaction |
| ENSG00000224221 | Chromatin interaction |
| ENSG00000203909 | Chromatin interaction |
| ENSG00000135297 | Chromatin interaction |
| ENSG00000164430 | Chromatin interaction |
| ENSG00000235174 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:6)
| rs_ID | r2[population] |
|---|---|
| rs1891494 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2124006 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6453659 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6453660 | 0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs6453661 | 0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs6453662 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3410973 | chr6:73716033-74419545 | Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 191 gene(s) | inside rSNPs | diseases |
| 2 | nsv1022151 | chr6:73876795-73996828 | Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 3 | nsv538304 | chr6:73876795-73996828 | Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
| 4 | nsv1030079 | chr6:73920050-73984084 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
| 5 | nsv886157 | chr6:73922561-73969722 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 19 gene(s) | inside rSNPs | diseases |
| 6 | esv3416786 | chr6:73925761-73958538 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 7 | esv3381844 | chr6:73929080-73961109 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6904505 | EIF3EP1 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:73934000-73972400 | Weak transcription | Ovary | ovary |
| 2 | chr6:73950400-73972200 | Weak transcription | Right Atrium | heart |
