Variant report
| Variant | rs2509615 |
|---|---|
| Chromosome Location | chr11:75390897-75390898 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:75386150..75388228-chr11:75388460..75391085,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10751245 | 0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes] |
| rs12225010 | 0.80[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs17245228 | 0.84[TSI][hapmap] |
| rs516573 | 0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs530260 | 0.88[ASN][1000 genomes] |
| rs538956 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs540461 | 0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs590611 | 0.88[ASN][1000 genomes] |
| rs629238 | 0.80[EUR][1000 genomes] |
| rs640703 | 0.88[CEU][hapmap];0.80[EUR][1000 genomes] |
| rs646989 | 0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs655036 | 0.92[CEU][hapmap];0.83[MEX][hapmap] |
| rs658601 | 0.88[CEU][hapmap];0.87[MEX][hapmap] |
| rs668581 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs670923 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs677283 | 0.80[EUR][1000 genomes] |
| rs7103237 | 0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes] |
| rs75954 | 0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap] |
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 | esv3381903 | chr11:75123498-75587233 | Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 81 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2509615 | MRPL48 | cis | parietal | SCAN |
| rs2509615 | GAB2 | cis | parietal | SCAN |
| rs2509615 | PGM2L1 | cis | parietal | SCAN |
| rs2509615 | KRTAP5-9 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:75390800-75391000 | Bivalent Enhancer | Placenta | Placenta |
