Variant report
| Variant | rs3014993 |
|---|---|
| Chromosome Location | chr12:68342908-68342909 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:67920945..67923196-chr12:68340533..68343308,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10878700 | 0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10878701 | 0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10878703 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11176953 | 0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12309752 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12309845 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12314296 | 0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12315396 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs2906852 | 0.82[CEU][hapmap] |
| rs2930110 | 0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2930113 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs3741646 | 0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs3850593 | 0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3901488 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7134358 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7969459 | 0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3411149 | chr12:68066948-68435533 | Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv1039638 | chr12:68293351-68399871 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 3 | nsv899219 | chr12:68293419-68353649 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:68341400-68351000 | Weak transcription | Psoas Muscle | Psoas |
