Variant report
| Variant | rs10992716 |
|---|---|
| Chromosome Location | chr9:96134897-96134898 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | EGR1 | chr9:96134703-96135180 | K562 | blood: | n/a | chr9:96135114-96135124 chr9:96135107-96135129 chr9:96135110-96135125 chr9:96135111-96135124 chr9:96135111-96135124 |
| 2 | POLR2A | chr9:96134840-96135022 | H1-hESC | embryonic stem cell: | n/a | n/a |
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-FAM120A-3 | chr9:96134579-96135091 | ucscGeneNc_uc004auq_1 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RNU6-829P | TF binding region |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs10739947 | 0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10821123 | 0.91[ASW][hapmap];0.80[LWK][hapmap];0.90[YRI][hapmap] |
| rs11788028 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1871155 | 0.87[EUR][1000 genomes] |
| rs2100928 | 0.93[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap] |
| rs4743918 | 0.88[EUR][1000 genomes] |
| rs4744227 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs4744228 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs7026490 | 0.81[AMR][1000 genomes];0.88[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 | nsv893576 | chr9:95789960-96158277 | Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10992716 | ANKRD19 | cis | cerebellum | SCAN |
| rs10992716 | CENPP | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
