Variant report
| Variant | rs73185892 |
|---|---|
| Chromosome Location | chr3:118864395-118864396 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:215)
- 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 |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:118863177..118864705-chr3:118958357..118960193,2 | K562 | blood: | |
| 2 | chr3:118863850..118864593-chr3:118925031..118926020,4 | MCF-7 | breast: | |
| 3 | chr3:118863219..118864917-chr3:118959824..118960983,11 | MCF-7 | breast: | |
| 4 | chr3:118864109..118864821-chr3:118925347..118925976,3 | MCF-7 | breast: | |
| 5 | chr3:118863527..118866220-chr3:118958408..118962544,4 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| C3orf30 | TF binding region |
| ENSG00000251012 | TF binding region |
| ENSG00000121578 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:37)
| rs_ID | r2[population] |
|---|---|
| rs10049288 | 0.84[EUR][1000 genomes] |
| rs11508010 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs11508695 | 0.84[AMR][1000 genomes] |
| rs11712237 | 0.84[EUR][1000 genomes] |
| rs13319456 | 0.84[EUR][1000 genomes] |
| rs28823407 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs28870458 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs4077931 | 0.84[EUR][1000 genomes] |
| rs4356813 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4467449 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs55911923 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs57442844 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs6777192 | 0.84[EUR][1000 genomes] |
| rs73185875 | 0.84[EUR][1000 genomes] |
| rs73185889 | 0.80[EUR][1000 genomes] |
| rs73185897 | 0.84[EUR][1000 genomes] |
| rs7651570 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs9289119 | 0.83[AFR][1000 genomes] |
| rs9653914 | 0.84[EUR][1000 genomes] |
| rs9653915 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9681876 | 0.81[EUR][1000 genomes] |
| rs9814301 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9815641 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9831616 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9832079 | 0.85[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs9832324 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs9850855 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs9851484 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9855251 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9859975 | 0.84[EUR][1000 genomes] |
| rs9864071 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9864357 | 1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs9865644 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9866152 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9870250 | 0.81[EUR][1000 genomes] |
| rs9870763 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9878229 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3487859 | chr3:118570588-119419623 | Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 61 gene(s) | inside rSNPs | diseases |
| 2 | esv3487860 | chr3:118570588-119419623 | Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 61 gene(s) | inside rSNPs | diseases |
| 3 | nsv829692 | chr3:118727772-118901711 | Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 4 | esv18354 | chr3:118855337-119000251 | Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:118860600-118864400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 2 | chr3:118863800-118865200 | Enhancers | A549 | lung |
| 3 | chr3:118864000-118864800 | Enhancers | Stomach Mucosa | stomach |
| 4 | chr3:118864200-118864800 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
