Variant report
| Variant | rs4668342 |
|---|---|
| Chromosome Location | chr2:171758777-171758778 |
| allele | C/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 | chr2:171757429..171759773-chr2:171785249..171788163,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000115806 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1035839 | 0.82[ASW][hapmap];0.80[CEU][hapmap];0.85[TSI][hapmap] |
| rs12465006 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs13017649 | 0.80[CEU][hapmap];0.85[TSI][hapmap] |
| rs13389859 | 0.80[CEU][hapmap] |
| rs16859121 | 0.80[CEU][hapmap] |
| rs2162574 | 1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2356600 | 0.80[CEU][hapmap] |
| rs2557791 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2676137 | 0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs2676143 | 0.80[CEU][hapmap];0.85[TSI][hapmap] |
| rs2676145 | 0.80[CEU][hapmap];0.85[TSI][hapmap] |
| rs2723250 | 0.80[CEU][hapmap] |
| rs2723253 | 0.80[CEU][hapmap] |
| rs2883940 | 0.80[CEU][hapmap] |
| rs4668356 | 0.80[CEU][hapmap];0.85[TSI][hapmap] |
| rs6433265 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6736045 | 0.80[CEU][hapmap] |
| rs7608813 | 0.88[CEU][hapmap] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv431801 | chr2:171721493-171966493 | ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4668342 | FUT8 | trans | lymphoblastoid | seeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:171751000-171761800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
