Variant report
| Variant | rs72891216 |
|---|---|
| Chromosome Location | chr11:5334150-5334151 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 11:5243048-5250847..11:5333905-5335774 | Hela-S3 | cervix: | |
| 2 | 11:5333905-5335774..11:5616559-5618985 | H1-hESC | embryonic stem cell: | embryo |
| 3 | 11:5333905-5335774..11:5469844-5475173 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 11:5250847-5268367..11:5333905-5335774 | Hela-S3 | cervix: | |
| 5 | 11:5333905-5335774..11:5714465-5718134 | Hela-S3 | cervix: | |
| 6 | 11:4900708-4903421..11:5333905-5335774 | Hela-S3 | cervix: | |
| 7 | chr11:5330393..5334206-chr11:5464650..5469323,6 | K562 | blood: | |
| 8 | 11:5018576-5020673..11:5333905-5335774 | H1-hESC | embryonic stem cell: | embryo |
| 9 | 11:5333905-5335774..11:5407716-5412355 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000244734 | Chromatin interaction |
| ENSG00000132274 | Chromatin interaction |
| ENSG00000258588 | Chromatin interaction |
| ENSG00000187918 | Chromatin interaction |
| ENSG00000176900 | Chromatin interaction |
| ENSG00000221031 | Chromatin interaction |
| ENSG00000229988 | Chromatin interaction |
| ENSG00000176798 | Chromatin interaction |
| ENSG00000184698 | Chromatin interaction |
| ENSG00000121236 | Chromatin interaction |
| ENSG00000260629 | Chromatin interaction |
| ENSG00000223609 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs3886224 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3899123 | 0.84[EUR][1000 genomes] |
| rs55812026 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56082659 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72873005 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72873006 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72873011 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72874660 | 1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72874662 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72874665 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72874666 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72874668 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72886296 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72886299 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1042613 | chr11:5173410-5336839 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv1052750 | chr11:5187571-5338802 | Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 3 | nsv1048355 | chr11:5192334-5336839 | Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 4 | nsv1037760 | chr11:5228195-5338802 | Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| 5 | nsv1054068 | chr11:5228264-5336839 | Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 33 gene(s) | inside rSNPs | diseases |
| 6 | nsv524400 | chr11:5328361-5416622 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 7 | nsv1048608 | chr11:5328516-5645179 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 60 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5330400-5345000 | Weak transcription | K562 | blood |
