Variant report
Variant | rs10038017 |
---|---|
Chromosome Location | chr5:112649001-112649002 |
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 | chr4:32159312..32160248-chr5:112648833..112649616,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10037836 | 0.86[ASN][1000 genomes] |
rs10037845 | 0.86[ASN][1000 genomes] |
rs10040533 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10040770 | 1.00[EUR][1000 genomes] |
rs10043512 | 0.86[ASN][1000 genomes] |
rs10044201 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10051109 | 0.94[EUR][1000 genomes] |
rs10056104 | 0.86[ASN][1000 genomes] |
rs10058535 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10059129 | 0.94[EUR][1000 genomes] |
rs10070884 | 0.86[ASN][1000 genomes] |
rs10070990 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10074346 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10075447 | 0.94[EUR][1000 genomes] |
rs10478121 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10519344 | 1.00[EUR][1000 genomes] |
rs11953478 | 0.94[EUR][1000 genomes] |
rs11954016 | 0.94[EUR][1000 genomes] |
rs11954410 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11958613 | 0.86[ASN][1000 genomes] |
rs11958734 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12108831 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13356396 | 0.81[EUR][1000 genomes] |
rs13361059 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs13361060 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs13362158 | 0.94[EUR][1000 genomes] |
rs17135493 | 0.85[EUR][1000 genomes] |
rs17135568 | 0.86[ASN][1000 genomes] |
rs17135570 | 0.86[ASN][1000 genomes] |
rs1882620 | 0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2068922 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs28462299 | 0.86[ASN][1000 genomes] |
rs28494592 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs55794576 | 0.94[EUR][1000 genomes] |
rs56875463 | 0.94[EUR][1000 genomes] |
rs57727389 | 0.86[ASN][1000 genomes] |
rs61560548 | 0.86[ASN][1000 genomes] |
rs6868620 | 0.86[ASN][1000 genomes] |
rs6874313 | 0.86[ASN][1000 genomes] |
rs6874561 | 0.85[EUR][1000 genomes] |
rs73779001 | 1.00[EUR][1000 genomes] |
rs73779022 | 0.94[EUR][1000 genomes] |
rs73781511 | 1.00[ASN][1000 genomes] |
rs73781512 | 0.86[ASN][1000 genomes] |
rs73781513 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs73781514 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7700940 | 0.89[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7718459 | 0.86[ASN][1000 genomes] |
rs7719166 | 0.94[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7720189 | 0.86[ASN][1000 genomes] |
rs7736171 | 0.86[ASN][1000 genomes] |
rs9285877 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9326881 | 0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9326882 | 0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9326883 | 0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv599396 | chr5:112408944-112853189 | Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
2 | nsv882718 | chr5:112519471-112674376 | Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
3 | nsv882719 | chr5:112568212-112706511 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
4 | nsv1024747 | chr5:112592710-112679373 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
5 | nsv1018078 | chr5:112615220-112657404 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
6 | nsv949165 | chr5:112615626-112730216 | Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | nsv528805 | chr5:112641650-112650751 | Enhancers Genic enhancers Weak transcription Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:112647800-112649200 | Enhancers | HSMM | muscle |
2 | chr5:112648000-112649200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr5:112648000-112649200 | Enhancers | Hela-S3 | cervix |
4 | chr5:112648000-112649200 | Enhancers | HMEC | breast |
5 | chr5:112648200-112649200 | Enhancers | HUVEC | blood vessel |
6 | chr5:112648800-112666600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
7 | chr5:112649000-112649400 | Enhancers | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
8 | chr5:112649000-112649800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |