Variant report
Variant | rs7543650 |
---|---|
Chromosome Location | chr1:210170975-210170976 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:210166266..210168306-chr1:210168394..210171304,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11590161 | 0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12401646 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12750599 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17318612 | 0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs17318744 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs227196 | 0.81[AFR][1000 genomes] |
rs227219 | 0.81[AFR][1000 genomes] |
rs2451696 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs2451697 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs2484030 | 0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs2484031 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs2484032 | 1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes] |
rs2484033 | 0.84[EUR][1000 genomes] |
rs2484034 | 0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2485883 | 0.84[ASN][1000 genomes] |
rs2494169 | 0.88[YRI][hapmap] |
rs2494191 | 0.86[AMR][1000 genomes] |
rs34704551 | 0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs34931444 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs35256257 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4844954 | 1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes] |
rs56131913 | 0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs61820396 | 0.95[EUR][1000 genomes] |
rs61820397 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs61826848 | 0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6540578 | 0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6657016 | 0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs701947 | 0.81[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap] |
rs701948 | 0.83[MKK][hapmap];0.89[YRI][hapmap] |
rs7528647 | 0.81[LWK][hapmap];0.85[MKK][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999901 | chr1:209600631-210205379 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 76 gene(s) | inside rSNPs | diseases |
2 | nsv1014034 | chr1:209759648-210501731 | Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
3 | nsv873140 | chr1:210068117-210335644 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
4 | esv1821002 | chr1:210108473-210291476 | ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:210162800-210189200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:210167400-210171400 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
3 | chr1:210167600-210172200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |