Variant report
| Variant | rs6994120 |
|---|---|
| Chromosome Location | chr8:61016310-61016311 |
| 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 | chr8:61015464..61017544-chr8:61191755..61195090,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000178538 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:23)
| rs_ID | r2[population] |
|---|---|
| rs10504307 | 0.80[AMR][1000 genomes] |
| rs11992705 | 0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11992804 | 0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11993797 | 0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11997938 | 0.91[ASN][1000 genomes] |
| rs16918817 | 0.97[ASN][1000 genomes] |
| rs16925756 | 0.97[ASN][1000 genomes] |
| rs17739151 | 0.80[AMR][1000 genomes] |
| rs17811959 | 0.80[AMR][1000 genomes] |
| rs17812084 | 0.80[AMR][1000 genomes] |
| rs1965456 | 0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1965457 | 0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs28536556 | 0.81[EUR][1000 genomes] |
| rs28608109 | 0.80[AMR][1000 genomes] |
| rs58381151 | 0.93[ASN][1000 genomes] |
| rs59103400 | 0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs62509884 | 0.97[ASN][1000 genomes] |
| rs62509903 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs62509912 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs62509914 | 0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs62509942 | 0.80[AMR][1000 genomes] |
| rs62509951 | 0.80[AMR][1000 genomes] |
| rs7822705 | 0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv917756 | chr8:60942299-61862796 | Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 74 gene(s) | inside rSNPs | diseases |
| 2 | esv2757276 | chr8:60984213-61021843 | Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | esv2759620 | chr8:60984213-61021843 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv831332 | chr8:60985600-61157730 | Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
