Variant report
| Variant | rs7600422 |
|---|---|
| Chromosome Location | chr2:125440980-125440981 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CEBPB | chr2:125440744-125441653 | IMR90 | lung: | n/a | chr2:125441630-125441641 chr2:125441630-125441641 |
| 2 | MAFK | chr2:125440868-125441952 | IMR90 | lung: | n/a | chr2:125441894-125441908 |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| MTND5P22 | TF binding region |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11123058 | 0.95[CEU][hapmap];1.00[JPT][hapmap] |
| rs11686120 | 0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11900585 | 1.00[CEU][hapmap];1.00[JPT][hapmap] |
| rs12467127 | 0.88[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap] |
| rs12472624 | 0.87[CEU][hapmap];1.00[JPT][hapmap] |
| rs1454135 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs1454136 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs17320899 | 1.00[JPT][hapmap] |
| rs2421094 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2901333 | 1.00[CEU][hapmap];1.00[JPT][hapmap] |
| rs34836625 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4848970 | 0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap] |
| rs55858918 | 0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs55960516 | 0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs768318 | 0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs768319 | 0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv834359 | chr2:125367872-125536022 | Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv428727 | chr2:125372897-125512949 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG island | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:125439800-125442600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
