Variant report
| Variant | rs1840144 |
|---|---|
| Chromosome Location | chr2:234504340-234504341 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:10)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:10 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 2:234498935-234505513..2:234666975-234672018 | Hela-S3 | cervix: | |
| 2 | 2:234498935-234505513..2:234835115-234838817 | Hela-S3 | cervix: | |
| 3 | 2:234498935-234505513..2:234683624-234705119 | K562 | blood: | |
| 4 | 2:234498935-234505513..2:234635414-234639782 | Hela-S3 | cervix: | |
| 5 | 2:234498935-234505513..2:234898811-234918017 | Hela-S3 | cervix: | |
| 6 | 2:234498935-234505513..2:234572898-234594986 | K562 | blood: | |
| 7 | 2:234498935-234505513..2:234825998-234827518 | Hela-S3 | cervix: | |
| 8 | 2:234498935-234505513..2:234543708-234558325 | H1-hESC | embryonic stem cell: | embryo |
| 9 | 2:234498935-234505513..2:234743181-234749667 | Hela-S3 | cervix: | |
| 10 | 2:234498935-234505513..2:234954947-234965240 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000242515 | Chromatin interaction |
| ENSG00000241119 | Chromatin interaction |
| ENSG00000242366 | Chromatin interaction |
| ENSG00000185038 | Chromatin interaction |
| ENSG00000144481 | Chromatin interaction |
| ENSG00000123485 | Chromatin interaction |
| ENSG00000243135 | Chromatin interaction |
| ENSG00000072080 | Chromatin interaction |
| ENSG00000241635 | Chromatin interaction |
| ENSG00000244122 | Chromatin interaction |
| ENSG00000234143 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs1115381 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs1377460 | 0.84[AMR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1597945 | 0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1817154 | 0.85[ASN][1000 genomes] |
| rs2602361 | 0.93[ASN][1000 genomes] |
| rs2741031 | 0.84[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2741032 | 0.83[ASN][1000 genomes] |
| rs2741035 | 0.84[ASN][1000 genomes] |
| rs2741043 | 0.86[ASN][1000 genomes] |
| rs28444828 | 0.83[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 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 | esv3445986 | chr2:234494952-234557707 | Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 18 gene(s) | inside rSNPs | diseases |
| 5 | nsv876014 | chr2:234495742-234545861 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 17 gene(s) | inside rSNPs | diseases |
| 6 | esv3419326 | chr2:234498411-234560470 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 17 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
