Variant report
| Variant | rs10474614 |
|---|---|
| Chromosome Location | chr5:79574868-79574869 |
| allele | A/G |
| 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 | chr5:79549776..79552176-chr5:79572981..79575249,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000164300 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10037587 | 0.92[EUR][1000 genomes] |
| rs10052506 | 0.83[ASN][1000 genomes] |
| rs10054681 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10054927 | 0.84[ASN][1000 genomes] |
| rs10055300 | 1.00[ASN][1000 genomes] |
| rs10056958 | 0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10070311 | 0.99[ASN][1000 genomes] |
| rs10070958 | 0.90[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs10071189 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10075519 | 0.88[ASN][1000 genomes] |
| rs10474013 | 0.96[ASN][1000 genomes] |
| rs10474015 | 0.90[ASN][1000 genomes] |
| rs12332228 | 0.98[ASN][1000 genomes] |
| rs12332699 | 0.96[ASN][1000 genomes] |
| rs13353903 | 0.92[EUR][1000 genomes] |
| rs13360748 | 0.93[EUR][1000 genomes] |
| rs13361029 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28366631 | 0.96[ASN][1000 genomes] |
| rs28401747 | 0.96[ASN][1000 genomes] |
| rs28424275 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs28520641 | 0.85[ASN][1000 genomes] |
| rs28605690 | 0.87[ASN][1000 genomes] |
| rs6453512 | 1.00[ASN][1000 genomes] |
| rs72778013 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72778033 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs72778039 | 0.84[ASN][1000 genomes] |
| rs9293811 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs950788 | 1.00[ASN][1000 genomes] |
| rs9654436 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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 | nsv432748 | chr5:79300434-79577760 | Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv948807 | chr5:79549207-79805765 | Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:79553400-79577800 | Weak transcription | Right Atrium | heart |
| 2 | chr5:79567800-79580400 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
