Variant report
| Variant | rs4756064 |
|---|---|
| Chromosome Location | chr11:46240487-46240488 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:46240364..46242725-chr11:46242954..46244645,2 | K562 | blood: | |
| 2 | chr11:46231907..46234628-chr11:46240321..46242392,2 | K562 | blood: | |
| 3 | chr11:46240075..46247012-chr11:46255086..46262989,16 | K562 | blood: | |
| 4 | chr11:46239861..46241772-chr11:46260396..46261899,2 | K562 | blood: | |
| 5 | chr11:46237842..46240799-chr11:46371780..46373451,2 | K562 | blood: | |
| 6 | chr11:46240341..46242626-chr11:46245382..46247122,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000254639 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs1024004 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10734541 | 1.00[ASN][1000 genomes] |
| rs10769193 | 1.00[ASN][1000 genomes] |
| rs10769198 | 0.84[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap] |
| rs10838571 | 1.00[ASN][1000 genomes] |
| rs2029482 | 1.00[ASN][1000 genomes] |
| rs2029483 | 1.00[ASN][1000 genomes] |
| rs2863725 | 0.91[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2902551 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4387328 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61884129 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61884130 | 0.82[EUR][1000 genomes] |
| rs6485666 | 1.00[ASN][1000 genomes] |
| rs6485670 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
| rs7117279 | 1.00[CEU][hapmap] |
| rs7121210 | 0.82[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7128233 | 0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs7925296 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7925932 | 1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs923531 | 0.82[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9734613 | 1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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 | nsv1051344 | chr11:46188818-46306447 | Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 47 gene(s) | inside rSNPs | diseases |
| 2 | nsv541028 | chr11:46188818-46306447 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 47 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4756064 | NR1H3 | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:46239400-46241800 | Weak transcription | K562 | blood |
