Variant report
| Variant | rs9290987 |
|---|---|
| Chromosome Location | chr3:191144599-191144600 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:191142125..191144834-chr3:191234046..191236954,2 | K562 | blood: | |
| 2 | chr3:191144312..191145933-chr3:191218364..191220735,2 | K562 | blood: | |
| 3 | chr3:191142943..191145489-chr3:191191004..191192799,2 | MCF-7 | breast: | |
| 4 | chr3:191137511..191140077-chr3:191143766..191146491,2 | K562 | blood: | |
| 5 | chr3:191046415..191047944-chr3:191142386..191144796,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000188958 | Chromatin interaction |
| ENSG00000152492 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs1542672 | 1.00[ASN][1000 genomes] |
| rs1594951 | 1.00[ASN][1000 genomes] |
| rs4247188 | 1.00[ASN][1000 genomes] |
| rs4677733 | 1.00[ASN][1000 genomes] |
| rs4687208 | 1.00[ASN][1000 genomes] |
| rs5021498 | 1.00[ASN][1000 genomes] |
| rs56395850 | 1.00[ASN][1000 genomes] |
| rs6783718 | 1.00[ASN][1000 genomes] |
| rs73888532 | 1.00[ASN][1000 genomes] |
| rs73888533 | 1.00[ASN][1000 genomes] |
| rs73888550 | 1.00[ASN][1000 genomes] |
| rs9290984 | 1.00[ASN][1000 genomes] |
| rs9808988 | 1.00[ASN][1000 genomes] |
| rs9826406 | 1.00[ASN][1000 genomes] |
| rs9836519 | 1.00[ASN][1000 genomes] |
| rs9837020 | 1.00[ASN][1000 genomes] |
| rs9856910 | 1.00[ASN][1000 genomes] |
| rs9861203 | 1.00[ASN][1000 genomes] |
| rs9869673 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv931943 | chr3:190860224-191321873 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | esv2757910 | chr3:190867011-191279107 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 3 | esv2759209 | chr3:190867011-191279107 | Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv428428 | chr3:190936834-191215596 | Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 5 | nsv998208 | chr3:191021434-191175350 | Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 6 | nsv534269 | chr3:191037181-191261730 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:191143200-191146400 | Active TSS | K562 | blood |
| 2 | chr3:191144200-191146200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 3 | chr3:191144400-191147800 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
