Variant report
Variant | rs12084888 |
---|---|
Chromosome Location | chr1:158658957-158658958 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:16)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:16 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPD | chr1:158658939-158659356 | K562 | blood: | n/a | n/a |
2 | TBL1XR1 | chr1:158658832-158659360 | K562 | blood: | n/a | n/a |
3 | RCOR1 | chr1:158658923-158659178 | K562 | blood: | n/a | n/a |
4 | GATA1 | chr1:158658522-158659865 | PBDE | blood: | n/a | n/a |
5 | RCOR1 | chr1:158658881-158659590 | K562 | blood: | n/a | n/a |
6 | TAL1 | chr1:158658634-158659536 | K562 | blood: | n/a | n/a |
7 | TEAD4 | chr1:158658919-158659309 | K562 | blood: | n/a | n/a |
8 | GATA2 | chr1:158658917-158659277 | K562 | blood: | n/a | n/a |
9 | CEBPD | chr1:158658949-158659382 | K562 | blood: | n/a | n/a |
10 | GATA2 | chr1:158658930-158659302 | K562 | blood: | n/a | n/a |
11 | POLR2A | chr1:158658956-158659310 | K562 | blood: | n/a | n/a |
12 | POLR2A | chr1:158658937-158659153 | K562 | blood: | n/a | n/a |
13 | EP300 | chr1:158658815-158659420 | K562 | blood: | n/a | n/a |
14 | IRF1 | chr1:158658809-158659812 | K562 | blood: | n/a | n/a |
15 | TEAD4 | chr1:158658831-158659244 | K562 | blood: | n/a | n/a |
16 | 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 |
rs_ID | r2[population] |
---|---|
rs11265061 | 0.80[AMR][1000 genomes] |
rs11265062 | 0.80[AMR][1000 genomes] |
rs12062927 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs73022006 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs73028094 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs7531961 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes] |

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 |