Variant report
| Variant | rs7302038 |
|---|---|
| Chromosome Location | chr12:48307641-48307642 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:48305115..48307646-chr12:48309250..48311512,3 | K562 | blood: | |
| 2 | chr12:48306813..48310122-chr12:48315023..48318005,3 | K562 | blood: | |
| 3 | chr12:48297407..48299746-chr12:48306202..48309710,3 | MCF-7 | breast: | |
| 4 | chr12:48300486..48303147-chr12:48306990..48309895,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000111424 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10875698 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs10875700 | 0.89[YRI][hapmap] |
| rs10875702 | 0.88[YRI][hapmap] |
| rs11168302 | 0.88[ASW][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes] |
| rs11168303 | 0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11168304 | 0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11168305 | 0.81[AFR][1000 genomes] |
| rs11574032 | 1.00[JPT][hapmap] |
| rs34438994 | 1.00[EUR][1000 genomes] |
| rs4077869 | 1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4411327 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4514490 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57419443 | 1.00[EUR][1000 genomes] |
| rs58915362 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61553170 | 1.00[EUR][1000 genomes] |
| rs7970168 | 0.94[AFR][1000 genomes];0.81[AMR][1000 genomes] |
| rs7975847 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7979360 | 0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 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 | nsv428589 | chr12:48282920-48341192 | Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48306800-48307800 | Weak transcription | Duodenum Mucosa | Duodenum |
