Variant report
Variant | rs1126159 |
---|---|
Chromosome Location | chr19:40174119-40174120 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr19:40172219..40174410-chr19:40181019..40183380,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000269460 | TF binding region |
rs_ID | r2[population] |
---|---|
rs11083533 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11880813 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12461697 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12978229 | 0.88[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs16973566 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs16973568 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs28625546 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs35876063 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs3786939 | 0.87[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes] |
rs3810397 | 0.87[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs3810398 | 0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs55796830 | 0.91[ASN][1000 genomes] |
rs55824044 | 0.92[ASN][1000 genomes] |
rs56280894 | 0.89[ASN][1000 genomes] |
rs56332617 | 0.92[ASN][1000 genomes] |
rs56741478 | 0.82[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs59661491 | 0.92[ASN][1000 genomes] |
rs60447868 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs60688354 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs60714140 | 0.84[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs71356866 | 0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs72480730 | 0.92[ASN][1000 genomes] |
rs72480731 | 0.94[ASN][1000 genomes] |
rs7251304 | 1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7251631 | 0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7259169 | 0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7259291 | 0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs9789262 | 0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1057361 | chr19:40123868-40310996 | Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
2 | esv3413868 | chr19:40130700-40184720 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
3 | nsv1061361 | chr19:40131820-40310996 | Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
4 | nsv579511 | chr19:40132825-40310497 | Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
5 | nsv1062394 | chr19:40133229-40310186 | Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
6 | nsv544004 | chr19:40133229-40310186 | Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
7 | esv3355956 | chr19:40135051-40188792 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
8 | esv3998 | chr19:40135120-40188646 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
9 | esv3397881 | chr19:40150495-40199437 | Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
10 | nsv1059691 | chr19:40168862-40306373 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
11 | nsv544005 | chr19:40168862-40306373 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
12 | nsv960763 | chr19:40168890-40177573 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:40170000-40184600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr19:40171200-40189000 | Weak transcription | Psoas Muscle | Psoas |
3 | chr19:40171800-40177600 | Weak transcription | Fetal Muscle Leg | muscle |
4 | chr19:40172400-40180400 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
5 | chr19:40173200-40175800 | Strong transcription | GM12878-XiMat | blood |