Variant report
| Variant | rs11119680 |
|---|---|
| Chromosome Location | chr1:211309203-211309204 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
1
| No data |
(count:9 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:211308948..211310585-chr1:211431441..211433238,2 | MCF-7 | breast: | |
| 2 | chr1:210545779..210548757-chr1:211307483..211309293,2 | K562 | blood: | |
| 3 | chr1:210546747..210548989-chr1:211307016..211309989,4 | MCF-7 | breast: | |
| 4 | chr1:210621290..210622106-chr1:211308152..211309364,3 | MCF-7 | breast: | |
| 5 | chr1:210617470..210620137-chr1:211308701..211310289,2 | MCF-7 | breast: | |
| 6 | chr1:210580467..210581234-chr1:211308480..211309338,4 | K562 | blood: | |
| 7 | chr1:210621340..210622000-chr1:211308511..211309335,2 | K562 | blood: | |
| 8 | chr1:210545399..210547663-chr1:211308907..211310460,2 | MCF-7 | breast: | |
| 9 | chr1:210580352..210581221-chr1:211308252..211309278,4 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| KCNH1 | TF binding region |
| KCNH1-IT1 | TF binding region |
| ENSG00000200972 | Chromatin interaction |
| ENSG00000117625 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11119684 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11119690 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs11119698 | 0.92[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12036302 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12119695 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs1338351 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1577985 | 0.94[AFR][1000 genomes] |
| rs1933523 | 0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2066023 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2066024 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs3811395 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4512717 | 1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs4951729 | 0.90[AFR][1000 genomes] |
| rs58722379 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs6663683 | 0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs6703560 | 0.90[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs7525019 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11119680 | KCNH1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:211309000-211310400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
