Variant report
| Variant | rs12418190 |
|---|---|
| Chromosome Location | chr11:8899818-8899819 |
| allele | C/G |
| 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 | chr11:8892466..8895053-chr11:8899767..8902040,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000166444 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10840139 | 0.80[AFR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11042105 | 0.98[ASN][1000 genomes] |
| rs11042106 | 0.82[AFR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11042107 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11042108 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11042114 | 0.81[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11042115 | 0.94[ASN][1000 genomes] |
| rs11042116 | 0.94[ASN][1000 genomes] |
| rs11042118 | 0.94[ASN][1000 genomes] |
| rs12049908 | 0.81[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12223690 | 0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2455601 | 0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56336128 | 0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7104661 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72632952 | 0.82[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758256 | chr11:8784813-9009573 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 2 | esv2759803 | chr11:8784813-9009573 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 3 | nsv435923 | chr11:8839325-9000602 | Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 4 | nsv832062 | chr11:8849295-9009472 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 5 | esv3413845 | chr11:8887279-9285127 | Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12418190 | TMEM9B-AS1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | Esophagus Mucosa | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | Artery Tibial | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | Thyroid | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | Muscle Skeletal | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | Esophagus Muscularis | GTEx |
| rs12418190 | TMEM9B-AS1 | cis | lung | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:8892800-8906600 | Weak transcription | Spleen | Spleen |
| 2 | chr11:8894000-8903400 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
| 3 | chr11:8899800-8900800 | Weak transcription | Psoas Muscle | Psoas |
