Variant report
| Variant | rs72482115 |
|---|---|
| Chromosome Location | chr2:234494925-234494926 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 2:234494396-234495604..2:234882053-234898292 | K562 | blood: | |
| 2 | 2:234494396-234495604..2:234572898-234594986 | K562 | blood: | |
| 3 | 2:234494396-234495604..2:234666975-234672018 | K562 | blood: | |
| 4 | 2:234494396-234495604..2:234898811-234918017 | K562 | blood: | |
| 5 | 2:234494396-234495604..2:234743181-234749667 | Hela-S3 | cervix: | |
| 6 | 2:234494396-234495604..2:234625307-234630376 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000244122 | Chromatin interaction |
| ENSG00000241119 | Chromatin interaction |
| ENSG00000242366 | Chromatin interaction |
| ENSG00000244474 | Chromatin interaction |
| ENSG00000123485 | Chromatin interaction |
| ENSG00000144481 | Chromatin interaction |
| ENSG00000241635 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs36047716 | 1.00[EUR][1000 genomes] |
| rs41264147 | 1.00[EUR][1000 genomes] |
| rs41270765 | 1.00[EUR][1000 genomes] |
| rs55692234 | 1.00[EUR][1000 genomes] |
| rs56847313 | 1.00[EUR][1000 genomes] |
| rs57468849 | 1.00[EUR][1000 genomes] |
| rs58553955 | 1.00[EUR][1000 genomes] |
| rs61214492 | 1.00[EUR][1000 genomes] |
| rs61739478 | 1.00[EUR][1000 genomes] |
| rs6740882 | 1.00[EUR][1000 genomes] |
| rs6741894 | 1.00[EUR][1000 genomes] |
| rs72482113 | 1.00[EUR][1000 genomes] |
| rs73995971 | 1.00[EUR][1000 genomes] |
| rs73995981 | 1.00[EUR][1000 genomes] |
| rs73997603 | 1.00[EUR][1000 genomes] |
| rs73997604 | 1.00[EUR][1000 genomes] |
| rs9941556 | 1.00[EUR][1000 genomes] |
| rs9941651 | 1.00[EUR][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 | nsv529419 | chr2:234229606-234670426 | Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
| 2 | nsv876013 | chr2:234338227-234579915 | Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv428072 | chr2:234393609-234624769 | Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 4 | esv11149 | chr2:234492605-234501401 | Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 5 | esv1801264 | chr2:234492805-234500262 | Enhancers Active TSS Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 6 | esv1802734 | chr2:234492805-234500262 | Enhancers Bivalent Enhancer Active TSS Weak transcription | TF binding regionChromatin interactive region | 14 gene(s) | inside rSNPs | diseases |
| 7 | nsv522661 | chr2:234493048-234496945 | Enhancers Active TSS Weak transcription | TF binding regionChromatin interactive region | 12 gene(s) | inside rSNPs | diseases |
| 8 | nsv961571 | chr2:234494111-234495500 | Enhancers Weak transcription | Chromatin interactive region | 10 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
