Variant report
| Variant | rs2214228 |
|---|---|
| Chromosome Location | chr7:117575188-117575189 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:116434729-116454408..7:117569455-117577236 | H1-hESC | embryonic stem cell: | embryo |
| 2 | 7:117100350-117112126..7:117569455-117577236 | GM12878 | blood: | |
| 3 | 7:116957165-116964911..7:117569455-117577236 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 7:116604327-116608063..7:117569455-117577236 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000105989 | Chromatin interaction |
| ENSG00000228368 | Chromatin interaction |
| ENSG00000001626 | Chromatin interaction |
| ENSG00000198898 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs11970916 | 0.83[AMR][1000 genomes];0.94[ASN][1000 genomes] |
| rs11981592 | 0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12532066 | 0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12533586 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1476518 | 0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2188833 | 0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2193256 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs34785444 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs35113998 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs35261918 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs35997845 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs67330021 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6977357 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7784966 | 0.84[AMR][1000 genomes];0.99[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869971 | chr7:117420583-118274149 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
