Variant report
| Variant | rs366414 |
|---|---|
| Chromosome Location | chr1:220849101-220849102 |
| allele | A/C |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:220848519..220851962-chr1:220854951..220857000,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs11118589 | 0.87[ASN][1000 genomes] |
| rs1690714 | 0.86[CEU][hapmap];0.82[EUR][1000 genomes] |
| rs2069044 | 0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2935222 | 0.81[AMR][1000 genomes] |
| rs2994525 | 0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3015247 | 0.81[AMR][1000 genomes] |
| rs337153 | 0.88[CEU][hapmap];0.83[TSI][hapmap] |
| rs337154 | 0.88[CEU][hapmap];0.83[TSI][hapmap] |
| rs365798 | 0.80[TSI][hapmap] |
| rs383681 | 0.82[EUR][1000 genomes] |
| rs3849288 | 0.94[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs414838 | 0.88[CEU][hapmap];0.82[EUR][1000 genomes] |
| rs416735 | 0.82[EUR][1000 genomes] |
| rs427216 | 0.83[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes] |
| rs774132 | 0.83[CEU][hapmap] |
| rs774145 | 0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs774146 | 0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs9431295 | 0.81[TSI][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | nsv468194 | chr1:220845610-220885612 | Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 2 | nsv549227 | chr1:220845610-220885612 | Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:8)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs366414 | C1orf115 | cis | lymphoblastoid | seeQTL |
| rs366414 | C1orf115 | cis | Esophagus Muscularis | GTEx |
| rs366414 | C1orf115 | Cis_1M | lymphoblastoid | RTeQTL |
| rs366414 | MOSC2 | Cis_1M | lymphoblastoid | RTeQTL |
| rs366414 | RRP15 | cis | parietal | SCAN |
| rs366414 | C1orf115 | cis | Lymphoblastoid | GTEx |
| rs366414 | MOSC2 | cis | lymphoblastoid | seeQTL |
| rs366414 | C1orf115 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:220848000-220853600 | Weak transcription | Duodenum Mucosa | Duodenum |
