Variant report
| Variant | rs12647537 |
|---|---|
| Chromosome Location | chr4:130169415-130169416 |
| 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 | chr4:130166365..130168857-chr4:130168927..130171485,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs1015251 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1015253 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12647521 | 0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17014474 | 0.85[EUR][1000 genomes] |
| rs17014502 | 1.00[ASN][1000 genomes] |
| rs17014506 | 1.00[ASN][1000 genomes] |
| rs17014509 | 0.96[ASN][1000 genomes] |
| rs17014511 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28821777 | 0.93[ASN][1000 genomes] |
| rs4306974 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs4975199 | 0.93[ASN][1000 genomes] |
| rs56268381 | 0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs72687167 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs72687171 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs72688710 | 0.93[ASN][1000 genomes] |
| rs953397 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs971446 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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 | nsv534538 | chr4:129799138-130431688 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 2 | nsv879931 | chr4:129939775-130178102 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv830058 | chr4:130136025-130315471 | Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv1031806 | chr4:130152860-130178330 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | nsv879932 | chr4:130167642-130264517 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:130168600-130170800 | Enhancers | Fetal Kidney | kidney |
| 2 | chr4:130169400-130169800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
