Variant report
Variant | rs7300136 |
---|---|
Chromosome Location | chr12:49477334-49477335 |
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 | chr12:49477289..49493962-chr12:49512467..49528127,64 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000258017 | Chromatin interaction |
ENSG00000200309 | Chromatin interaction |
ENSG00000123416 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10459221 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10459232 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10783300 | 0.80[ASN][1000 genomes] |
rs10783301 | 0.89[ASN][1000 genomes] |
rs10875908 | 0.80[ASN][1000 genomes] |
rs10875910 | 0.80[ASN][1000 genomes] |
rs10875911 | 0.80[ASN][1000 genomes] |
rs10875912 | 0.83[ASN][1000 genomes] |
rs10875913 | 0.83[ASN][1000 genomes] |
rs10875914 | 0.83[ASN][1000 genomes] |
rs10875915 | 0.83[ASN][1000 genomes] |
rs10875917 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10875918 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11168827 | 0.82[ASN][1000 genomes] |
rs11168838 | 0.94[ASN][1000 genomes] |
rs11168839 | 0.95[ASN][1000 genomes] |
rs11168850 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1138908 | 0.80[ASN][1000 genomes] |
rs11614738 | 0.84[ASN][1000 genomes] |
rs12298884 | 0.85[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs12580349 | 0.85[ASN][1000 genomes] |
rs12821008 | 0.97[ASN][1000 genomes] |
rs2117029 | 0.80[ASN][1000 genomes] |
rs2241726 | 0.89[ASN][1000 genomes] |
rs2293445 | 0.80[ASN][1000 genomes] |
rs2293446 | 0.81[ASN][1000 genomes] |
rs2304275 | 0.89[ASN][1000 genomes] |
rs34436857 | 0.89[ASN][1000 genomes] |
rs3782357 | 0.84[ASN][1000 genomes] |
rs6580698 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6580699 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7296288 | 0.89[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs7969091 | 0.91[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs876333 | 0.84[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1051161 | chr12:49314550-49828473 | Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
2 | nsv541489 | chr12:49314550-49828473 | Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
3 | nsv558833 | chr12:49358880-49478812 | Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 69 gene(s) | inside rSNPs | diseases |
4 | nsv1036452 | chr12:49376285-49867760 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 315 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:49474400-49479800 | Weak transcription | HSMMtube | muscle |
2 | chr12:49474400-49481800 | Weak transcription | HSMM | muscle |
3 | chr12:49476200-49481800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |