Variant report
| Variant | rs313091 |
|---|---|
| Chromosome Location | chr4:127482083-127482084 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:20)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:20 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | MAFF | chr4:127482012-127482259 | K562 | blood: | n/a | n/a |
| 2 | FOSL2 | chr4:127481931-127482424 | SK-N-SH | brain: | n/a | n/a |
| 3 | PBX3 | chr4:127481865-127482424 | SK-N-SH | brain: | n/a | n/a |
| 4 | FOS | chr4:127481986-127482280 | MCF10A-Er-Src | breast: | n/a | chr4:127482168-127482179 |
| 5 | TCF12 | chr4:127481812-127482414 | SK-N-SH | brain: | n/a | n/a |
| 6 | JUND | chr4:127481848-127482404 | SK-N-SH | brain: | n/a | n/a |
| 7 | EP300 | chr4:127481799-127482432 | SK-N-SH | brain: | n/a | n/a |
| 8 | FOS | chr4:127481992-127482325 | MCF10A-Er-Src | breast: | n/a | chr4:127482168-127482179 |
| 9 | GATA3 | chr4:127481860-127482399 | SK-N-SH | brain: | n/a | n/a |
| 10 | POLR2A | chr4:127481965-127482280 | SK-N-SH | brain: | n/a | n/a |
| 11 | GATA3 | chr4:127481923-127482438 | SK-N-SH | brain: | n/a | n/a |
| 12 | PBX3 | chr4:127481965-127482400 | SK-N-SH | brain: | n/a | n/a |
| 13 | POLR2A | chr4:127481868-127482298 | K562 | blood: | n/a | n/a |
| 14 | FOS | chr4:127481992-127482270 | MCF10A-Er-Src | breast: | n/a | chr4:127482168-127482179 |
| 15 | TCF12 | chr4:127481893-127482419 | SK-N-SH | brain: | n/a | n/a |
| 16 | FOS | chr4:127481989-127482296 | HUVEC | blood vessel: | n/a | chr4:127482168-127482179 |
| 17 | POLR2A | chr4:127482063-127482097 | MCF10A-Er-Src | breast: | n/a | n/a |
| 18 | FOS | chr4:127482029-127482320 | MCF10A-Er-Src | breast: | n/a | chr4:127482168-127482179 |
| 19 | EP300 | chr4:127481776-127482423 | SK-N-SH | brain: | n/a | n/a |
| 20 | EP300 | chr4:127481998-127482306 | SK-N-SH_RA | brain: | n/a | n/a |
| No data |
| No data |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| RBM48P1 | TF binding region |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10002417 | 1.00[EUR][1000 genomes] |
| rs1355405 | 1.00[EUR][1000 genomes] |
| rs192856 | 1.00[EUR][1000 genomes] |
| rs2202824 | 1.00[EUR][1000 genomes] |
| rs3103670 | 1.00[EUR][1000 genomes] |
| rs3103671 | 1.00[EUR][1000 genomes] |
| rs3103672 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs3114042 | 1.00[EUR][1000 genomes] |
| rs3114043 | 1.00[EUR][1000 genomes] |
| rs313051 | 1.00[EUR][1000 genomes] |
| rs313052 | 1.00[EUR][1000 genomes] |
| rs313062 | 1.00[EUR][1000 genomes] |
| rs313089 | 1.00[EUR][1000 genomes] |
| rs313106 | 1.00[EUR][1000 genomes] |
| rs313126 | 1.00[EUR][1000 genomes] |
| rs313127 | 1.00[EUR][1000 genomes] |
| rs313141 | 1.00[EUR][1000 genomes] |
| rs313143 | 1.00[EUR][1000 genomes] |
| rs313145 | 1.00[EUR][1000 genomes] |
| rs368317 | 1.00[EUR][1000 genomes] |
| rs378245 | 1.00[EUR][1000 genomes] |
| rs404298 | 1.00[EUR][1000 genomes] |
| rs425619 | 1.00[EUR][1000 genomes] |
| rs426134 | 1.00[EUR][1000 genomes] |
| rs434214 | 1.00[EUR][1000 genomes] |
| rs439910 | 1.00[EUR][1000 genomes] |
| rs7689724 | 1.00[AMR][1000 genomes] |
| rs7695903 | 1.00[AMR][1000 genomes] |
| rs992182 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1012833 | chr4:127468474-127760933 | Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv537242 | chr4:127468474-127760933 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv524850 | chr4:127470903-127768849 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:127474800-127493400 | Weak transcription | K562 | blood |
