Variant report
| Variant | rs2374012 |
|---|---|
| Chromosome Location | chr13:93081910-93081911 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:93075883..93078553-chr13:93079250..93083045,3 | K562 | blood: | |
| 2 | chr13:93070548..93072245-chr13:93081774..93084405,2 | K562 | blood: | |
| 3 | chr13:93079626..93082261-chr13:93082433..93085843,3 | K562 | blood: | |
| 4 | chr13:92986047..92988836-chr13:93080866..93083328,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs1023011 | 0.88[YRI][hapmap] |
| rs12583412 | 1.00[ASW][hapmap] |
| rs16947580 | 1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap] |
| rs2209838 | 1.00[ASW][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7333480 | 0.88[YRI][hapmap] |
| rs7338861 | 0.88[YRI][hapmap] |
| rs73632216 | 0.87[EUR][1000 genomes] |
| rs7988839 | 0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap] |
| rs7990928 | 0.92[CEU][hapmap];0.89[EUR][1000 genomes] |
| rs7994769 | 0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap] |
| rs8001555 | 0.88[GIH][hapmap] |
| rs9301806 | 0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
| rs9561043 | 0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap] |
| rs9561049 | 0.87[EUR][1000 genomes] |
| rs9561050 | 0.92[CEU][hapmap];0.80[CHD][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes] |
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 | nsv832680 | chr13:93021114-93181489 | Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2374012 | COL8A2 | trans | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
