Variant report
| Variant | rs12960042 |
|---|---|
| Chromosome Location | chr18:28692016-28692017 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000134755 | Chromatin interaction |
| ENSG00000265888 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs1437604 | 0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1595358 | 0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1626413 | 0.81[ASN][1000 genomes] |
| rs1626700 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1658111 | 0.80[ASN][1000 genomes] |
| rs1658112 | 0.81[ASN][1000 genomes] |
| rs1658125 | 0.82[AFR][1000 genomes] |
| rs1658130 | 0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1658135 | 0.81[ASN][1000 genomes] |
| rs1789036 | 0.80[ASN][1000 genomes] |
| rs1790669 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790670 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790671 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790673 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790674 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790675 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1790706 | 0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2243907 | 0.80[ASN][1000 genomes] |
| rs2577079 | 0.80[ASN][1000 genomes] |
| rs2577081 | 0.81[ASN][1000 genomes] |
| rs4799563 | 0.81[ASN][1000 genomes] |
| rs4799565 | 0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3388313 | chr18:28583296-28693160 | Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv530788 | chr18:28596461-28751891 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv962465 | chr18:28689021-28697558 | Enhancers Weak transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:28689400-28692400 | Weak transcription | K562 | blood |
| 2 | chr18:28691800-28694600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
