Variant report
| Variant | rs669423 |
|---|---|
| Chromosome Location | chr11:107447727-107447728 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:107447510..107449666-chr11:107450655..107453909,3 | K562 | blood: | |
| 2 | chr11:107447551..107449731-chr11:107476688..107479043,2 | MCF-7 | breast: | |
| 3 | chr11:107447431..107448148-chr11:107560127..107560783,2 | MCF-7 | breast: | |
| 4 | chr11:107447313..107447854-chr11:107640968..107641965,2 | K562 | blood: | |
| 5 | chr11:107447344..107448341-chr11:107461359..107462355,2 | MCF-7 | breast: | |
| 6 | chr11:107437455..107439131-chr11:107446967..107448506,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000110675 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs11212286 | 0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1893015 | 0.82[EUR][1000 genomes] |
| rs1943684 | 0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs582119 | 0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs584192 | 0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs594766 | 0.83[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs620163 | 0.96[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs677287 | 0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1038368 | chr11:107116577-107664181 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv541163 | chr11:107116577-107664181 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
| 3 | nsv556376 | chr11:107250851-107486598 | Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv533794 | chr11:107349817-108093259 | Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs669423 | ELMOD1 | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:107447600-107448400 | Enhancers | Placenta Amnion | Placenta Amnion |
