Variant report
| Variant | rs6918792 |
|---|---|
| Chromosome Location | chr6:27451419-27451420 |
| allele | A/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 | chr6:27264044..27265873-chr6:27450054..27451666,2 | MCF-7 | breast: | |
| 2 | chr6:27449659..27451510-chr6:27459264..27461160,2 | K562 | blood: | |
| 3 | chr6:27436780..27444180-chr6:27444326..27451609,21 | K562 | blood: | |
| 4 | chr6:27445490..27447467-chr6:27449850..27451759,2 | K562 | blood: | |
| 5 | chr6:27445490..27447223-chr6:27448748..27451759,4 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000096654 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10484399 | 0.86[EUR][1000 genomes] |
| rs13191474 | 0.86[EUR][1000 genomes] |
| rs13195040 | 0.86[EUR][1000 genomes] |
| rs13195636 | 0.87[EUR][1000 genomes] |
| rs13202775 | 0.81[EUR][1000 genomes] |
| rs13207689 | 0.81[EUR][1000 genomes] |
| rs13209332 | 0.87[EUR][1000 genomes] |
| rs34105070 | 0.81[EUR][1000 genomes] |
| rs34196306 | 0.86[EUR][1000 genomes] |
| rs34573979 | 0.91[EUR][1000 genomes] |
| rs34613987 | 0.90[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs34864796 | 1.00[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs34965299 | 0.87[EUR][1000 genomes] |
| rs35848276 | 0.87[EUR][1000 genomes] |
| rs41269265 | 0.86[EUR][1000 genomes] |
| rs58616630 | 0.91[EUR][1000 genomes] |
| rs66785117 | 0.87[EUR][1000 genomes] |
| rs67240003 | 0.95[AFR][1000 genomes];0.88[EUR][1000 genomes] |
| rs67859638 | 0.81[EUR][1000 genomes] |
| rs6904596 | 0.88[EUR][1000 genomes] |
| rs7749305 | 1.00[AFR][1000 genomes];0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1022797 | chr6:27396961-27864277 | Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 390 gene(s) | inside rSNPs | diseases |
| 2 | nsv830617 | chr6:27424769-27598595 | Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 3 | nsv883508 | chr6:27434220-27455625 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 18 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6918792 | ZFP57 | Cis_chr | lymphoblastoid | RTeQTL |
| rs6918792 | BTN3A2 | Cis_chr | lymphoblastoid | RTeQTL |
| rs6918792 | BTN3A2///BTN3A3 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:27451400-27451800 | Enhancers | HepG2 | liver |
