Variant report
| Variant | rs11050002 |
|---|---|
| Chromosome Location | chr12:29198175-29198176 |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:29197257..29200417-chr12:29204358..29207773,4 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10843302 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10843314 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs10843315 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11049982 | 0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11049984 | 0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11049993 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11049994 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11049996 | 0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11050000 | 0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11050016 | 1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs11050027 | 0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1122176 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12228134 | 0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12313069 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs17706344 | 0.87[EUR][1000 genomes] |
| rs17707217 | 0.85[CEU][hapmap] |
| rs73061763 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73074110 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs73074119 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7952775 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7972564 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv532233 | chr12:29009388-29496179 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv995123 | chr12:29095272-29571558 | Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 3 | esv2758301 | chr12:29110782-29289849 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | esv2759888 | chr12:29110782-29289849 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 5 | nsv557912 | chr12:29197747-29217245 | Enhancers Weak transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:29195400-29198600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
| 2 | chr12:29196400-29198800 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
