Variant report
| Variant | rs34990096 |
|---|---|
| Chromosome Location | chr1:193938733-193938734 |
| 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 | chr1:193937203..193939818-chr1:193949717..193951267,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs12239644 | 0.88[EUR][1000 genomes] |
| rs12404680 | 0.86[ASN][1000 genomes] |
| rs12406963 | 0.86[ASN][1000 genomes] |
| rs12725939 | 0.88[EUR][1000 genomes] |
| rs16835983 | 0.85[EUR][1000 genomes] |
| rs17614545 | 0.88[EUR][1000 genomes] |
| rs34292625 | 0.91[EUR][1000 genomes] |
| rs34944998 | 0.88[EUR][1000 genomes] |
| rs35168515 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs601018 | 0.91[ASN][1000 genomes] |
| rs6672292 | 0.93[ASN][1000 genomes] |
| rs71642941 | 0.93[EUR][1000 genomes] |
| rs72641801 | 0.88[AFR][1000 genomes];0.91[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | nsv1008266 | chr1:193550185-194481053 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | esv3372415 | chr1:193612172-193988265 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv872834 | chr1:193889533-194482304 | Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 4 | nsv947144 | chr1:193921642-193969239 | Enhancers ZNF genes & repeats Weak transcription Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:193930800-193940600 | Weak transcription | Fetal Heart | heart |
