Variant report
| Variant | rs6545500 |
|---|---|
| Chromosome Location | chr2:55695696-55695697 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr2:55695614-55695809 | HepG2 | liver: | n/a | chr2:55695716-55695727 |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:55687006..55688643-chr2:55695301..55697827,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000264849 | TF binding region |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10174532 | 0.82[ASN][1000 genomes] |
| rs10206363 | 0.93[ASN][1000 genomes] |
| rs1037509 | 0.96[ASN][1000 genomes] |
| rs11125575 | 0.81[ASN][1000 genomes] |
| rs11125578 | 0.99[ASN][1000 genomes] |
| rs11884094 | 0.92[ASN][1000 genomes] |
| rs12999476 | 0.93[ASN][1000 genomes] |
| rs13399420 | 0.87[ASN][1000 genomes] |
| rs13412745 | 0.86[ASN][1000 genomes] |
| rs1454425 | 0.94[ASN][1000 genomes] |
| rs4671245 | 0.95[ASN][1000 genomes] |
| rs4672046 | 0.95[ASN][1000 genomes] |
| rs6545501 | 0.94[ASN][1000 genomes] |
| rs6719033 | 0.94[ASN][1000 genomes] |
| rs6724457 | 0.93[ASN][1000 genomes] |
| rs7567744 | 0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7570226 | 0.93[ASN][1000 genomes] |
| rs7570299 | 0.93[ASN][1000 genomes] |
| rs7593229 | 0.93[ASN][1000 genomes] |
| rs897095 | 0.93[ASN][1000 genomes] |
| rs897096 | 0.93[ASN][1000 genomes] |
| rs897097 | 0.93[ASN][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 | nsv1006170 | chr2:55530179-55809251 | Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 2 | nsv520581 | chr2:55622825-55903016 | Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 3 | nsv531374 | chr2:55653723-56299784 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6545500 | PNPT1 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
