Variant report
| Variant | rs72698097 |
|---|---|
| Chromosome Location | chr1:165681841-165681842 |
| 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 | chr1:165680330..165683090-chr1:165859945..165862839,2 | K562 | blood: | |
| 2 | chr1:165675457..165677242-chr1:165679704..165682648,2 | K562 | blood: | |
| 3 | chr1:165677856..165680745-chr1:165681004..165683770,2 | K562 | blood: | |
| 4 | chr1:165667520..165669276-chr1:165679917..165682478,2 | K562 | blood: | |
| 5 | chr1:165680183..165682740-chr1:165693137..165696252,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000143149 | Chromatin interaction |
| ENSG00000215838 | Chromatin interaction |
| ENSG00000143179 | Chromatin interaction |
| ENSG00000273365 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:24)
| rs_ID | r2[population] |
|---|---|
| rs10800136 | 0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10800139 | 0.85[ASN][1000 genomes] |
| rs10800147 | 0.97[ASN][1000 genomes] |
| rs10800148 | 0.97[ASN][1000 genomes] |
| rs10800150 | 0.98[ASN][1000 genomes] |
| rs10918258 | 0.98[ASN][1000 genomes] |
| rs10918265 | 0.98[ASN][1000 genomes] |
| rs12021643 | 0.90[ASN][1000 genomes] |
| rs12021678 | 0.98[ASN][1000 genomes] |
| rs12027066 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12044709 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12047474 | 0.82[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12069379 | 0.98[ASN][1000 genomes] |
| rs12143900 | 0.87[ASN][1000 genomes] |
| rs3753894 | 0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4582768 | 0.87[ASN][1000 genomes] |
| rs6699874 | 0.87[ASN][1000 genomes] |
| rs72698092 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs72698094 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs73016601 | 0.95[ASN][1000 genomes] |
| rs7514969 | 0.87[ASN][1000 genomes] |
| rs7537774 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7549418 | 1.00[ASN][1000 genomes] |
| rs7549509 | 0.87[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 | esv2756102 | chr1:165652342-165877342 | Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 48 gene(s) | inside rSNPs | diseases |
| 2 | nsv1011720 | chr1:165669589-165802516 | Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
