Variant report
Variant | rs912299 |
---|---|
Chromosome Location | chr1:172187250-172187251 |
allele | A/G |
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 | chr1:172182635..172185349-chr1:172186407..172188943,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10911315 | 0.81[CHB][hapmap] |
rs12125882 | 0.85[CEU][hapmap] |
rs1746428 | 0.81[EUR][1000 genomes] |
rs2819529 | 0.80[EUR][1000 genomes] |
rs473629 | 0.87[CEU][hapmap] |
rs479960 | 0.87[CEU][hapmap];0.80[EUR][1000 genomes] |
rs480988 | 0.80[EUR][1000 genomes] |
rs537444 | 0.87[CEU][hapmap] |
rs546751 | 0.80[EUR][1000 genomes] |
rs552399 | 0.81[EUR][1000 genomes] |
rs555798 | 0.84[CEU][hapmap] |
rs572802 | 0.81[EUR][1000 genomes] |
rs579989 | 0.84[CEU][hapmap] |
rs583578 | 0.87[CEU][hapmap];0.81[EUR][1000 genomes] |
rs586745 | 0.80[EUR][1000 genomes] |
rs589245 | 0.81[EUR][1000 genomes] |
rs590567 | 0.80[EUR][1000 genomes] |
rs598562 | 0.91[CEU][hapmap] |
rs629316 | 0.80[EUR][1000 genomes] |
rs633995 | 1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs651032 | 0.80[EUR][1000 genomes] |
rs676081 | 0.81[EUR][1000 genomes] |
rs683128 | 0.91[CEU][hapmap];0.82[EUR][1000 genomes] |
rs688451 | 0.82[EUR][1000 genomes] |
rs912300 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1000079 | chr1:172146935-172230545 | Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
2 | nsv465650 | chr1:172175115-172247127 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
3 | nsv548192 | chr1:172175115-172247127 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
4 | nsv872546 | chr1:172186321-172219995 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:172176600-172189800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |