Variant report
| Variant | rs55953926 |
|---|---|
| Chromosome Location | chr7:126316994-126316995 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:8)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:8 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:126312146-126318123..7:127233104-127239235 | H1-hESC | embryonic stem cell: | embryo |
| 2 | 7:126312146-126318123..7:127009457-127018926 | GM12878 | blood: | |
| 3 | 7:126312146-126318123..7:126890676-126899918 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 7:126312146-126318123..7:127225864-127233104 | GM12878 | blood: | |
| 5 | chr7:126314710..126317465-chr7:126320415..126322546,2 | K562 | blood: | |
| 6 | 7:126085913-126088095..7:126312146-126318123 | GM12878 | blood: | |
| 7 | 7:126312146-126318123..7:127031401-127034711 | GM12878 | blood: | |
| 8 | 7:126312146-126318123..7:127221502-127225864 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000004059 | Chromatin interaction |
| ENSG00000179562 | Chromatin interaction |
| ENSG00000179603 | Chromatin interaction |
| ENSG00000048405 | Chromatin interaction |
| ENSG00000106328 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs10227949 | 0.86[EUR][1000 genomes] |
| rs12706742 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs3808154 | 0.86[EUR][1000 genomes] |
| rs4728047 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs4731323 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs67157588 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7804631 | 0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv529300 | chr7:125669493-126587858 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv1032938 | chr7:126067684-126587859 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv539119 | chr7:126067684-126587859 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv889187 | chr7:126219766-126478190 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv1032108 | chr7:126278349-126362592 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| 6 | nsv5939 | chr7:126279355-126322778 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
