Variant report
| Variant | rs17738863 |
|---|---|
| Chromosome Location | chr14:55294230-55294231 |
| 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 | chr14:55293129..55294978-chr14:55368791..55371279,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000131979 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10139369 | 0.91[ASN][1000 genomes] |
| rs10143089 | 1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs10144725 | 1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs17127989 | 0.91[ASN][1000 genomes] |
| rs17127991 | 0.91[ASN][1000 genomes] |
| rs17128008 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17128011 | 1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs17128021 | 1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs17253584 | 1.00[CEU][hapmap];0.99[EUR][1000 genomes] |
| rs17253591 | 0.85[CEU][hapmap] |
| rs17671005 | 0.85[CEU][hapmap] |
| rs17671485 | 1.00[CEU][hapmap];0.99[EUR][1000 genomes] |
| rs17738966 | 0.99[EUR][1000 genomes] |
| rs17739146 | 1.00[CEU][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes] |
| rs2004633 | 0.99[EUR][1000 genomes] |
| rs41298434 | 0.98[EUR][1000 genomes] |
| rs45454691 | 0.99[EUR][1000 genomes] |
| rs56924179 | 0.82[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs7141175 | 0.84[CEU][hapmap] |
| rs7148831 | 0.99[EUR][1000 genomes] |
| rs73278772 | 0.99[EUR][1000 genomes] |
| rs7493025 | 1.00[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 | nsv530042 | chr14:55208170-55386966 | Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17738863 | TBPL2 | cis | parietal | SCAN |
| rs17738863 | EXOC5 | cis | cerebellum | SCAN |
| rs17738863 | PYGL | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:55293800-55306400 | Weak transcription | Aorta | Aorta |
