Variant report
| Variant | rs2987981 |
|---|---|
| Chromosome Location | chr14:64835518-64835519 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000140009 | Chromatin interaction |
| ENSG00000214770 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs12878181 | 1.00[ASN][1000 genomes] |
| rs1571511 | 1.00[CHB][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2983737 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2983743 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2983745 | 1.00[ASN][1000 genomes] |
| rs2987978 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2987985 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35262226 | 1.00[ASN][1000 genomes] |
| rs3891650 | 1.00[ASN][1000 genomes] |
| rs4899134 | 1.00[ASN][1000 genomes] |
| rs4902280 | 1.00[ASN][1000 genomes] |
| rs55739639 | 1.00[ASN][1000 genomes] |
| rs55795508 | 1.00[ASN][1000 genomes] |
| rs55857324 | 1.00[ASN][1000 genomes] |
| rs71416332 | 1.00[ASN][1000 genomes] |
| rs8003379 | 1.00[CHB][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][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 | nsv902019 | chr14:64395569-64882380 | Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2987981 | KCNH5 | cis | parietal | SCAN |
| rs2987981 | MTHFD1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:64816400-64853400 | Weak transcription | Primary B cells from cord blood | blood |
