Variant report
| Variant | rs60425126 |
|---|---|
| Chromosome Location | chr14:40327611-40327612 |
| 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 | chr14:40327383..40329209-chr14:40330906..40333385,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:12)
| rs_ID | r2[population] |
|---|---|
| rs12590824 | 0.81[AMR][1000 genomes] |
| rs12892026 | 0.85[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs12894377 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12894966 | 0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs17109965 | 0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1951329 | 0.85[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs1953192 | 0.86[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs1957210 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs1999607 | 0.80[AMR][1000 genomes] |
| rs4903076 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs4903095 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9944152 | 0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv832776 | chr14:40203172-40342229 | Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv530658 | chr14:40214958-40734070 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv2751272 | chr14:40216880-40913230 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1040418 | chr14:40293500-40339528 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 5 | nsv525070 | chr14:40302876-40353756 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | nsv901660 | chr14:40302876-40410765 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | nsv1047949 | chr14:40307360-40474579 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:40323800-40328200 | Weak transcription | Fetal Heart | heart |
| 2 | chr14:40327200-40327800 | Weak transcription | Fetal Intestine Large | intestine |
