Variant report
| Variant | rs1391615 |
|---|---|
| Chromosome Location | chr11:5541179-5541180 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:5519079..5520921-chr11:5539054..5541793,2 | K562 | blood: | |
| 2 | chr11:5540984..5543970-chr11:5665304..5667004,2 | K562 | blood: | |
| 3 | 11:5093737-5099374..11:5533869-5541626 | Hela-S3 | cervix: | |
| 4 | chr11:5525413..5527984-chr11:5538965..5541589,4 | K562 | blood: | |
| 5 | chr11:5537328..5540013-chr11:5540087..5542360,2 | K562 | blood: | |
| 6 | chr11:5533910..5536753-chr11:5540691..5545546,5 | K562 | blood: | |
| 7 | chr11:5539004..5541678-chr11:5543640..5546634,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000196565 | Chromatin interaction |
| ENSG00000213931 | Chromatin interaction |
| ENSG00000224295 | Chromatin interaction |
| ENSG00000175518 | Chromatin interaction |
| ENSG00000237354 | Chromatin interaction |
| ENSG00000167355 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs10160557 | 0.80[CEU][hapmap] |
| rs10160561 | 0.80[CEU][hapmap] |
| rs1433567 | 1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2010794 | 1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs317778 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6578654 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7131665 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7945471 | 1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
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 | 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 |
| 2 | nsv1046068 | chr11:5335943-6063742 | Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 89 gene(s) | inside rSNPs | diseases |
| 3 | nsv832057 | chr11:5375585-5576200 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 51 gene(s) | inside rSNPs | diseases |
| 4 | nsv896939 | chr11:5497799-5809548 | Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 5 | nsv467670 | chr11:5506034-5550630 | Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 6 | nsv553240 | chr11:5506034-5550630 | Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 7 | nsv553241 | chr11:5506034-6203685 | Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 74 gene(s) | inside rSNPs | diseases |
| 8 | nsv896940 | chr11:5535007-5582430 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 21 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:5536800-5548600 | Weak transcription | Pancreas | Pancrea |
| 2 | chr11:5539400-5551800 | Weak transcription | Ovary | ovary |
