Variant report
| Variant | rs12028096 |
|---|---|
| Chromosome Location | chr1:171735056-171735057 |
| allele | G/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 | chr1:171710037..171714996-chr1:171734843..171738629,6 | MCF-7 | breast: | |
| 2 | chr1:171710045..171712872-chr1:171732812..171737029,6 | MCF-7 | breast: | |
| 3 | chr1:171734034..171736178-chr1:171746102..171748315,3 | K562 | blood: | |
| 4 | chr1:171734176..171737844-chr1:171748206..171752284,5 | K562 | blood: | |
| 5 | chr1:171723775..171729031-chr1:171729363..171735304,8 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000010165 | Chromatin interaction |
| ENSG00000117533 | Chromatin interaction |
| ENSG00000271459 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10489250 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12021915 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12022661 | 1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12024194 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs12024335 | 0.82[EUR][1000 genomes] |
| rs12029218 | 0.83[AFR][1000 genomes] |
| rs12034114 | 0.89[EUR][1000 genomes] |
| rs12036980 | 1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs12089083 | 0.83[ASN][1000 genomes] |
| rs16843227 | 1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs2421910 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs57300412 | 0.86[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs58081399 | 0.83[ASN][1000 genomes] |
| rs61413126 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6659266 | 1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs6665590 | 0.83[ASN][1000 genomes] |
| rs6665614 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs72717888 | 0.83[AFR][1000 genomes] |
| rs72717895 | 0.89[EUR][1000 genomes] |
| rs72717900 | 1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs72719512 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7554793 | 0.83[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3512995 | chr1:171329123-171994470 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | esv3512997 | chr1:171329123-171994470 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12028096 | KIAA0859 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
