Variant report
Variant | rs10489823 |
---|---|
Chromosome Location | chr1:158146386-158146387 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:12)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:12 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | SPI1 | chr1:158146028-158146591 | GM12878 | blood: | n/a | n/a |
2 | SPI1 | chr1:158146309-158146462 | GM12878 | blood: | n/a | n/a |
3 | EBF1 | chr1:158146298-158146570 | GM12878 | blood: | n/a | n/a |
4 | MTA3 | chr1:158146111-158146565 | GM12878 | blood: | n/a | n/a |
5 | BATF | chr1:158146178-158146468 | GM12878 | blood: | n/a | n/a |
6 | RUNX3 | chr1:158146207-158146625 | GM12878 | blood: | n/a | n/a |
7 | TCF12 | chr1:158146272-158146515 | GM12878 | blood: | n/a | n/a |
8 | SPI1 | chr1:158146218-158146502 | GM12891 | blood: | n/a | n/a |
9 | SPI1 | chr1:158146227-158146525 | GM12891 | blood: | n/a | n/a |
10 | RUNX3 | chr1:158146213-158146499 | GM12878 | blood: | n/a | n/a |
11 | POU2F2 | chr1:158146262-158146488 | GM12891 | blood: | n/a | n/a |
12 | SPI1 | chr1:158146236-158146527 | GM12878 | 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 | chr1:158137977..158140665-chr1:158145143..158147474,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CD1D | TF binding region |
rs_ID | r2[population] |
---|---|
rs10489821 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12040592 | 0.91[CEU][hapmap] |
rs12723141 | 0.95[JPT][hapmap] |
rs1570699 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1633141 | 0.92[CEU][hapmap] |
rs1633149 | 0.92[CEU][hapmap] |
rs16839951 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs1748383 | 0.92[CEU][hapmap] |
rs1748387 | 0.92[CEU][hapmap] |
rs1980757 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2269715 | 0.80[JPT][hapmap] |
rs2518477 | 0.92[CEU][hapmap] |
rs3021476 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3021478 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs3087210 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3087211 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3087212 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3087213 | 0.84[EUR][1000 genomes] |
rs3118165 | 0.92[CEU][hapmap] |
rs368130 | 0.92[CEU][hapmap] |
rs374513 | 0.92[CEU][hapmap] |
rs377795 | 0.92[CEU][hapmap] |
rs383688 | 0.92[CEU][hapmap] |
rs384414 | 0.92[CEU][hapmap] |
rs389495 | 0.91[CEU][hapmap] |
rs393304 | 0.84[CEU][hapmap] |
rs401904 | 0.92[CEU][hapmap] |
rs402699 | 0.92[CEU][hapmap] |
rs406558 | 0.85[CEU][hapmap] |
rs407309 | 0.92[CEU][hapmap] |
rs413557 | 0.92[CEU][hapmap] |
rs434570 | 0.92[CEU][hapmap] |
rs440862 | 0.92[CEU][hapmap] |
rs448005 | 0.92[CEU][hapmap] |
rs448556 | 0.92[CEU][hapmap] |
rs449838 | 0.92[CEU][hapmap] |
rs594364 | 0.92[CEU][hapmap] |
rs607948 | 0.92[CEU][hapmap] |
rs623215 | 0.92[CEU][hapmap] |
rs6692064 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6692133 | 0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs691077 | 0.83[CEU][hapmap] |
rs691175 | 0.92[CEU][hapmap] |
rs691551 | 0.92[CEU][hapmap] |
rs72711995 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs72711999 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7530662 | 0.92[CEU][hapmap];0.90[JPT][hapmap] |
rs7548147 | 1.00[JPT][hapmap] |
rs7556487 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs859001 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs859002 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs859003 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs859005 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs859008 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs859009 | 1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs859010 | 1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs859011 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs859013 | 1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999542 | chr1:158015715-158368132 | Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
2 | nsv872479 | chr1:158118787-158484285 | Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:158139400-158147400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:158143800-158149000 | Weak transcription | Small Intestine | intestine |
3 | chr1:158145400-158147400 | Enhancers | Primary B cells from peripheral blood | blood |
4 | chr1:158145800-158147200 | Enhancers | Primary B cells from cord blood | blood |
5 | chr1:158146000-158147000 | Bivalent Enhancer | GM12878-XiMat | blood |
6 | chr1:158146200-158147200 | Enhancers | Primary monocytes fromperipheralblood | blood |