Variant report
| Variant | rs12531389 |
|---|---|
| Chromosome Location | chr7:78359196-78359197 |
| 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 | chr7:78354533..78356785-chr7:78357118..78359771,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs10242583 | 0.82[ASN][1000 genomes] |
| rs10485917 | 0.94[ASN][1000 genomes] |
| rs10485918 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs10485920 | 0.85[ASN][1000 genomes] |
| rs10953686 | 0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs11760265 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs11762589 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1390822 | 0.94[AFR][1000 genomes] |
| rs16886300 | 1.00[AFR][1000 genomes];0.94[ASN][1000 genomes] |
| rs16886301 | 0.94[AFR][1000 genomes];0.94[ASN][1000 genomes] |
| rs16886304 | 0.91[ASN][1000 genomes] |
| rs16886321 | 0.82[ASN][1000 genomes] |
| rs17151403 | 0.89[ASN][1000 genomes] |
| rs17151416 | 0.81[ASN][1000 genomes] |
| rs17151445 | 0.82[ASN][1000 genomes] |
| rs34048176 | 0.82[ASN][1000 genomes] |
| rs4370470 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs58148748 | 0.94[AFR][1000 genomes];0.91[ASN][1000 genomes] |
| rs73152428 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs73152456 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs739897 | 0.81[ASN][1000 genomes] |
| rs7789893 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs7790100 | 0.91[ASN][1000 genomes] |
| rs7810385 | 0.82[ASN][1000 genomes] |
| rs877682 | 0.82[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1022199 | chr7:78054639-78469370 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv538986 | chr7:78054639-78469370 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1019355 | chr7:78319575-78399845 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv607657 | chr7:78329795-78483211 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:78346800-78361400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 2 | chr7:78355600-78363400 | Weak transcription | Brain Anterior Caudate | brain |
