Variant report
| Variant | rs12085972 |
|---|---|
| Chromosome Location | chr1:158658869-158658870 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | TBL1XR1 | chr1:158658832-158659360 | K562 | blood: | n/a | n/a |
| 2 | GATA1 | chr1:158658522-158659865 | PBDE | blood: | n/a | n/a |
| 3 | TAL1 | chr1:158658634-158659536 | K562 | blood: | n/a | n/a |
| 4 | EP300 | chr1:158658815-158659420 | K562 | blood: | n/a | n/a |
| 5 | IRF1 | chr1:158658809-158659812 | K562 | blood: | n/a | n/a |
| 6 | TEAD4 | chr1:158658831-158659244 | K562 | blood: | n/a | n/a |
| 7 | ARID3A | chr1:158658785-158659538 | K562 | blood: | n/a | n/a |
| No data |
(count:1 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:158656464..158659384-chr1:159045094..159048407,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| SPTA1 | TF binding region |
| ENSG00000163568 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:4)
| rs_ID | r2[population] |
|---|---|
| rs11265050 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12079439 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12084832 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12085628 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv3491788 | chr1:158537183-158725907 | Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | esv3491789 | chr1:158537242-158725858 | Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv872481 | chr1:158625789-158712510 | Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive region | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv872482 | chr1:158635852-158698532 | Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
| 5 | nsv872483 | chr1:158635852-158712510 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:158658800-158659000 | Active TSS | K562 | blood |
