Variant report
| Variant | rs9257182 |
|---|---|
| Chromosome Location | chr6:28754817-28754818 |
| allele | A/C |
| 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 | chr6:28743433..28746834-chr6:28752955..28757172,5 | K562 | blood: | |
| 2 | chr6:28746864..28751693-chr6:28754692..28757727,4 | K562 | blood: | |
| 3 | chr6:28752766..28756379-chr6:28756550..28759154,4 | K562 | blood: | |
| 4 | chr6:28753746..28756116-chr6:28862923..28865863,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000221191 | Chromatin interaction |
| ENSG00000224157 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1233582 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes] |
| rs1233614 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs209181 | 0.81[AFR][1000 genomes] |
| rs2765220 | 0.85[AFR][1000 genomes] |
| rs3131344 | 0.81[AFR][1000 genomes] |
| rs3132372 | 0.81[AFR][1000 genomes] |
| rs3999045 | 0.92[ASN][1000 genomes] |
| rs417919 | 0.81[AFR][1000 genomes] |
| rs55659253 | 0.98[ASN][1000 genomes] |
| rs55764335 | 0.98[ASN][1000 genomes] |
| rs56098960 | 0.98[ASN][1000 genomes] |
| rs56165011 | 0.98[ASN][1000 genomes] |
| rs57791058 | 0.98[ASN][1000 genomes] |
| rs57965355 | 0.98[ASN][1000 genomes] |
| rs58258185 | 0.98[ASN][1000 genomes] |
| rs60252686 | 0.98[ASN][1000 genomes] |
| rs6916286 | 0.98[ASN][1000 genomes] |
| rs6923795 | 0.98[ASN][1000 genomes] |
| rs7739915 | 0.81[AFR][1000 genomes] |
| rs7751451 | 0.98[ASN][1000 genomes] |
| rs7758798 | 0.98[ASN][1000 genomes] |
| rs9257190 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv534089 | chr6:28636972-28841640 | Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 43 gene(s) | inside rSNPs | diseases |
| 2 | nsv883517 | chr6:28751727-28802149 | Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9257182 | BTN3A2///BTN3A3 | Cis_chr | lymphoblastoid | RTeQTL |
| rs9257182 | BTN3A2 | Cis_chr | lymphoblastoid | RTeQTL |
| rs9257182 | ZFP57 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:28750400-28756400 | Weak transcription | K562 | blood |
