Variant report
| Variant | rs517529 |
|---|---|
| Chromosome Location | chr7:16582628-16582629 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
1
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000087191 | Chromatin interaction |
| ENSG00000108592 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10259803 | 0.87[EUR][1000 genomes] |
| rs13227774 | 1.00[ASN][1000 genomes] |
| rs13228107 | 1.00[ASN][1000 genomes] |
| rs13232164 | 1.00[ASN][1000 genomes] |
| rs13246140 | 1.00[ASN][1000 genomes] |
| rs2011930 | 0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2014391 | 0.80[EUR][1000 genomes] |
| rs2108134 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs34000560 | 1.00[ASN][1000 genomes] |
| rs6461263 | 0.86[EUR][1000 genomes] |
| rs6945188 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6950712 | 1.00[ASN][1000 genomes] |
| rs6951596 | 1.00[ASN][1000 genomes] |
| rs6956385 | 1.00[ASN][1000 genomes] |
| rs6961390 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6963649 | 0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6968892 | 1.00[ASN][1000 genomes] |
| rs6969347 | 1.00[ASN][1000 genomes] |
| rs6974070 | 0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6980285 | 0.93[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs7780726 | 1.00[ASN][1000 genomes] |
| rs7790525 | 1.00[ASN][1000 genomes] |
| rs886753 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs886754 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1016642 | chr7:15884061-16799788 | Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | nsv1028125 | chr7:16529160-16847225 | Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv887757 | chr7:16568529-16615490 | Enhancers Active TSS Weak transcription Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv970401 | chr7:16580662-16583821 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv520493 | chr7:16581890-16584470 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:16581000-16584400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr7:16582200-16583200 | Weak transcription | Fetal Intestine Large | intestine |
| 3 | chr7:16582200-16583800 | Enhancers | Stomach Mucosa | stomach |
