Variant report
Variant | rs11124523 |
---|---|
Chromosome Location | chr2:36851264-36851265 |
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 | chr2:36846931..36849384-chr2:36851133..36853576,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10181247 | 0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11124522 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1158723 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs11886177 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs13389463 | 0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
rs2005889 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs2372692 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs55824331 | 0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs55848274 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs7422754 | 0.96[CEU][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs7600979 | 0.83[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1010985 | chr2:36707157-36942066 | Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
2 | nsv535642 | chr2:36707157-36942066 | Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
3 | nsv1007757 | chr2:36838387-37011384 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv535643 | chr2:36838387-37011384 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv523146 | chr2:36849220-36897909 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | nsv526283 | chr2:36851264-36880831 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:36846600-36852400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |