Variant report
| Variant | rs1819341 |
|---|---|
| Chromosome Location | chr13:93993699-93993700 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:93991281..93993960-chr13:94020512..94022314,2 | K562 | blood: | |
| 2 | chr13:93977966..93980099-chr13:93991360..93994357,2 | K562 | blood: | |
| 3 | chr13:93971946..93973781-chr13:93991313..93994089,2 | K562 | blood: | |
| 4 | chr13:93988036..93992700-chr13:93993487..93997832,6 | K562 | blood: | |
| 5 | chr13:93987009..93989536-chr13:93993487..93996020,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000252365 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1323975 | 0.84[AMR][1000 genomes] |
| rs1323985 | 0.87[AMR][1000 genomes] |
| rs1408209 | 0.90[AMR][1000 genomes] |
| rs1830788 | 1.00[ASN][1000 genomes] |
| rs1952361 | 0.94[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2225189 | 0.87[AMR][1000 genomes] |
| rs35664727 | 0.89[AMR][1000 genomes] |
| rs4142601 | 0.94[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs6492659 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs7324202 | 0.87[AMR][1000 genomes] |
| rs7984266 | 0.89[AMR][1000 genomes] |
| rs7988684 | 0.87[AMR][1000 genomes] |
| rs7992679 | 0.91[AMR][1000 genomes] |
| rs9301874 | 0.87[AMR][1000 genomes] |
| rs9301875 | 0.86[AMR][1000 genomes] |
| rs9524017 | 0.87[AMR][1000 genomes] |
| rs9524019 | 0.96[ASN][1000 genomes] |
| rs9524021 | 0.83[AMR][1000 genomes] |
| rs9561321 | 0.84[AMR][1000 genomes] |
| rs9561325 | 0.87[AMR][1000 genomes] |
| rs9561332 | 0.87[AMR][1000 genomes] |
| rs995811 | 0.87[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869070 | chr13:93347616-94286933 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv1053035 | chr13:93842576-94229732 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv541880 | chr13:93842576-94229732 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | nsv900919 | chr13:93957816-94030693 | Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:93990800-93995000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr13:93993000-93994400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
