Variant report
| Variant | rs28524914 |
|---|---|
| Chromosome Location | chr15:41494366-41494367 |
| allele | A/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 | chr15:41493527..41495439-chr15:41497642..41500215,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10851403 | 0.94[EUR][1000 genomes] |
| rs11852419 | 0.90[EUR][1000 genomes] |
| rs11855854 | 0.86[EUR][1000 genomes] |
| rs11855906 | 0.86[EUR][1000 genomes] |
| rs11856169 | 0.88[EUR][1000 genomes] |
| rs13329235 | 0.93[EUR][1000 genomes] |
| rs13329579 | 0.93[EUR][1000 genomes] |
| rs2448402 | 0.90[EUR][1000 genomes] |
| rs28374715 | 0.84[EUR][1000 genomes] |
| rs28382348 | 0.95[EUR][1000 genomes] |
| rs28493087 | 0.95[EUR][1000 genomes] |
| rs28538451 | 0.90[EUR][1000 genomes] |
| rs28554139 | 0.94[EUR][1000 genomes] |
| rs28671712 | 0.84[EUR][1000 genomes] |
| rs28827035 | 0.96[EUR][1000 genomes] |
| rs513280 | 0.93[EUR][1000 genomes] |
| rs521890 | 0.91[EUR][1000 genomes] |
| rs522063 | 0.91[EUR][1000 genomes] |
| rs533210 | 0.91[EUR][1000 genomes] |
| rs691011 | 0.91[EUR][1000 genomes] |
| rs691629 | 0.91[EUR][1000 genomes] |
| rs691906 | 0.91[EUR][1000 genomes] |
| rs691907 | 0.91[EUR][1000 genomes] |
| rs72737786 | 0.95[EUR][1000 genomes] |
| rs72737792 | 0.95[EUR][1000 genomes] |
| rs72737793 | 0.95[EUR][1000 genomes] |
| rs8038983 | 0.94[EUR][1000 genomes] |
| rs8043237 | 0.95[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 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 | nsv457120 | chr15:41410705-41546631 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv569231 | chr15:41410705-41546631 | Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 3 | nsv1039906 | chr15:41476209-41518976 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:11)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs28524914 | KRTAP4-7 | Cis_1M | lymphoblastoid | RTeQTL |
| rs28524914 | NDUFAF1 | cis | Esophagus Muscularis | GTEx |
| rs28524914 | LOC729082 | Cis_1M | lymphoblastoid | RTeQTL |
| rs28524914 | OIP5-AS1 | cis | Adipose Subcutaneous | GTEx |
| rs28524914 | NDUFAF1 | cis | Heart Left Ventricle | GTEx |
| rs28524914 | NDUFAF1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs28524914 | NDUFAF1 | cis | Thyroid | GTEx |
| rs28524914 | NDUFAF1 | cis | Muscle Skeletal | GTEx |
| rs28524914 | NDUFAF1 | cis | multi-tissue | Pritchard |
| rs28524914 | NDUFAF1 | cis | Whole Blood | GTEx |
| rs28524914 | OIP5-AS1 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:41484400-41494400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
