Variant report
| Variant | rs2409618 |
|---|---|
| Chromosome Location | chr8:9688670-9688671 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:12)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:12 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr8:9617870..9618700-chr8:9688130..9689029,3 | MCF-7 | breast: | |
| 2 | chr8:9226234..9227282-chr8:9688101..9689055,3 | K562 | blood: | |
| 3 | chr8:8527857..8528805-chr8:9688247..9689065,2 | K562 | blood: | |
| 4 | chr8:9224923..9225494-chr8:9688129..9688755,2 | MCF-7 | breast: | |
| 5 | chr8:9617693..9618675-chr8:9688115..9689212,3 | K562 | blood: | |
| 6 | chr8:9178042..9178608-chr8:9688275..9689205,2 | MCF-7 | breast: | |
| 7 | chr8:9618867..9619594-chr8:9688240..9688751,2 | K562 | blood: | |
| 8 | chr8:9606177..9606904-chr8:9688214..9688998,2 | MCF-7 | breast: | |
| 9 | chr1:43047085..43047605-chr8:9688214..9688790,2 | MCF-7 | breast: | |
| 10 | chr13:47630937..47631456-chr8:9688233..9688778,2 | MCF-7 | breast: | |
| 11 | chr8:9195933..9196478-chr8:9688212..9689059,2 | MCF-7 | breast: | |
| 12 | chr8:9617728..9618733-chr8:9688111..9689059,9 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000186409 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs10098119 | 0.83[EUR][1000 genomes] |
| rs11249961 | 0.95[EUR][1000 genomes] |
| rs11249963 | 0.82[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs11783922 | 0.84[EUR][1000 genomes] |
| rs12114434 | 0.84[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12114435 | 0.83[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12114977 | 0.80[EUR][1000 genomes] |
| rs12540961 | 0.80[EUR][1000 genomes] |
| rs12544850 | 0.80[AFR][1000 genomes] |
| rs12547274 | 0.80[EUR][1000 genomes] |
| rs12548657 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12550323 | 0.80[EUR][1000 genomes] |
| rs13251619 | 0.80[EUR][1000 genomes] |
| rs13260533 | 0.80[EUR][1000 genomes] |
| rs17150543 | 0.81[EUR][1000 genomes] |
| rs2048653 | 0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2048654 | 0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs28538374 | 0.91[EUR][1000 genomes] |
| rs4840447 | 1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs4840448 | 0.84[AFR][1000 genomes];0.95[EUR][1000 genomes] |
| rs61060597 | 0.81[EUR][1000 genomes] |
| rs6601383 | 1.00[CEU][hapmap] |
| rs6980545 | 0.81[EUR][1000 genomes] |
| rs6984624 | 0.81[EUR][1000 genomes] |
| rs6988507 | 0.81[EUR][1000 genomes] |
| rs7002962 | 0.81[EUR][1000 genomes] |
| rs7018379 | 0.81[EUR][1000 genomes] |
| rs73662549 | 0.91[EUR][1000 genomes] |
| rs7823438 | 0.82[EUR][1000 genomes] |
| rs9644712 | 0.95[EUR][1000 genomes] |
| rs9657510 | 0.82[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530864 | chr8:9097498-9914548 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 39 gene(s) | inside rSNPs | diseases |
| 2 | esv16865 | chr8:9642195-9712807 | Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | esv3525037 | chr8:9688504-9688739 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | esv3525038 | chr8:9688504-9688739 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | esv3336130 | chr8:9688517-9688676 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv3349748 | chr8:9688568-9688727 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 7 | esv3332294 | chr8:9688588-9688697 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 8 | esv1580635 | chr8:9688647-9688698 | Enhancers Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 9 | nsv397932 | chr8:9688648-9688698 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:9684200-9689000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr8:9688200-9690400 | Enhancers | HepG2 | liver |
