Variant report
| Variant | rs1362178 |
|---|---|
| Chromosome Location | chr7:126162920-126162921 |
| allele | C/T |
| 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 | chr7:126121758..126123459-chr7:126162475..126164735,2 | K562 | blood: | |
| 2 | 7:126154600-126176992..7:127221502-127225864 | Hela-S3 | cervix: | |
| 3 | 7:126154600-126176992..7:126756671-126761022 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 7:126154600-126176992..7:127009457-127018926 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000179562 | Chromatin interaction |
| ENSG00000179603 | Chromatin interaction |
| ENSG00000048405 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1015492 | 0.89[CEU][hapmap];0.90[EUR][1000 genomes] |
| rs1024380 | 1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes] |
| rs10257411 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
| rs1361981 | 1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1362179 | 0.87[ASN][1000 genomes] |
| rs1419472 | 1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs1419521 | 0.89[CEU][hapmap];0.88[TSI][hapmap] |
| rs2011451 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2041168 | 0.94[CEU][hapmap];0.87[ASN][1000 genomes] |
| rs2041169 | 0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[ASN][1000 genomes] |
| rs2237740 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2299447 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2299448 | 1.00[CEU][hapmap] |
| rs728224 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7458757 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7781356 | 0.94[CEU][hapmap];0.89[CHB][hapmap];0.87[ASN][1000 genomes] |
| rs7785200 | 0.89[CEU][hapmap];0.83[TSI][hapmap] |
| rs7808001 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:8 , 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 | nsv1023465 | chr7:125873329-126191422 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv1028204 | chr7:125897362-126225444 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv539118 | chr7:125897362-126225444 | Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 5 | nsv1033349 | chr7:126010250-126168918 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 6 | 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 |
| 7 | 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 |
| 8 | nsv521803 | chr7:126149319-126219766 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1362178 | POT1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:126157600-126170400 | Weak transcription | Left Ventricle | heart |
