Variant report
| Variant | rs5754096 |
|---|---|
| Chromosome Location | chr22:32851511-32851512 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:13)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:13 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 22:32170492-32188129..22:32846948-32860159 | K562 | blood: | |
| 2 | 22:32012966-32043914..22:32846948-32860159 | K562 | blood: | |
| 3 | 22:32846948-32860159..22:33190123-33206921 | K562 | blood: | |
| 4 | 22:32102727-32109893..22:32846948-32860159 | GM12878 | blood: | |
| 5 | 22:32264718-32278135..22:32846948-32860159 | GM12878 | blood: | |
| 6 | 22:32342898-32343477..22:32846948-32860159 | GM12878 | blood: | |
| 7 | 22:32188129-32210582..22:32846948-32860159 | K562 | blood: | |
| 8 | 22:32740683-32750950..22:32846948-32860159 | K562 | blood: | |
| 9 | 22:32292186-32294405..22:32846948-32860159 | Hela-S3 | cervix: | |
| 10 | 22:32846948-32860159..22:33339333-33353583 | K562 | blood: | |
| 11 | 22:32846948-32860159..22:33262063-33266567 | Hela-S3 | cervix: | |
| 12 | 22:32477762-32487457..22:32846948-32860159 | Hela-S3 | cervix: | |
| 13 | 22:32846948-32860159..22:33452523-33459358 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000100234 | Chromatin interaction |
| ENSG00000183530 | Chromatin interaction |
| ENSG00000100150 | Chromatin interaction |
| ENSG00000185666 | Chromatin interaction |
| ENSG00000128276 | Chromatin interaction |
| ENSG00000128245 | Chromatin interaction |
| ENSG00000241878 | Chromatin interaction |
| ENSG00000100170 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:3)
| rs_ID | r2[population] |
|---|---|
| rs11703361 | 1.00[JPT][hapmap] |
| rs28750094 | 1.00[AFR][1000 genomes] |
| rs5754103 | 1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][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 | nsv459874 | chr22:32574274-32866934 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 2 | nsv588895 | chr22:32574274-32866934 | Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
