Variant report
| Variant | rs1493798 |
|---|---|
| Chromosome Location | chr12:74927996-74927997 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:74926662..74928784-chr12:74930378..74933007,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257386 | Chromatin interaction |
| ENSG00000253719 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:36)
| rs_ID | r2[population] |
|---|---|
| rs1037887 | 1.00[AFR][1000 genomes] |
| rs1389486 | 0.83[AFR][1000 genomes] |
| rs1389487 | 0.83[AFR][1000 genomes] |
| rs1389489 | 1.00[AFR][1000 genomes] |
| rs1389490 | 1.00[AFR][1000 genomes] |
| rs1389491 | 1.00[AFR][1000 genomes] |
| rs1493804 | 1.00[AFR][1000 genomes] |
| rs1493807 | 1.00[AFR][1000 genomes] |
| rs1563930 | 1.00[AFR][1000 genomes] |
| rs1870699 | 1.00[AFR][1000 genomes] |
| rs1873987 | 1.00[AFR][1000 genomes] |
| rs1873988 | 1.00[AFR][1000 genomes] |
| rs2007674 | 1.00[AFR][1000 genomes] |
| rs2029717 | 1.00[AFR][1000 genomes] |
| rs2219608 | 1.00[AFR][1000 genomes] |
| rs2249335 | 0.83[AFR][1000 genomes] |
| rs2252250 | 1.00[AFR][1000 genomes] |
| rs2605360 | 1.00[AFR][1000 genomes] |
| rs2605379 | 1.00[AFR][1000 genomes] |
| rs2605380 | 1.00[AFR][1000 genomes] |
| rs2613880 | 1.00[AFR][1000 genomes] |
| rs2613892 | 1.00[AFR][1000 genomes] |
| rs2613896 | 1.00[AFR][1000 genomes] |
| rs2613899 | 1.00[AFR][1000 genomes] |
| rs2641465 | 1.00[AFR][1000 genomes] |
| rs2925223 | 1.00[AFR][1000 genomes] |
| rs2925224 | 1.00[AFR][1000 genomes] |
| rs2926807 | 1.00[AFR][1000 genomes] |
| rs588875 | 1.00[AFR][1000 genomes] |
| rs590166 | 1.00[AFR][1000 genomes] |
| rs596999 | 1.00[AFR][1000 genomes] |
| rs625531 | 1.00[AFR][1000 genomes] |
| rs663854 | 1.00[AFR][1000 genomes] |
| rs694314 | 1.00[AFR][1000 genomes] |
| rs922222 | 0.83[AFR][1000 genomes] |
| rs970236 | 1.00[AFR][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 | nsv1039468 | chr12:74080586-75000246 | Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv899292 | chr12:74835107-74934162 | Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv899293 | chr12:74835107-74995760 | Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 4 | nsv559414 | chr12:74850206-74931349 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| 5 | nsv899295 | chr12:74854750-74984992 | Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 6 | nsv559417 | chr12:74857957-74931349 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | n/a |
| 7 | nsv470303 | chr12:74880668-74945356 | Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 5 gene(s) | inside rSNPs | n/a |
| 8 | nsv899296 | chr12:74880668-74974630 | Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
