Variant report
| Variant | rs2319874 |
|---|---|
| Chromosome Location | chr14:22179342-22179343 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:5)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:5 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr14:22179320-22179470 | GM12868 | blood: | n/a | n/a |
| 2 | CTCF | chr14:22179331-22180030 | HepG2 | liver: | n/a | chr14:22179774-22179795 chr14:22179773-22179789 chr14:22179772-22179790 chr14:22179775-22179788 chr14:22179775-22179788 |
| 3 | CTCF | chr14:22179318-22180258 | A549 | lung: | n/a | chr14:22179774-22179795 chr14:22179773-22179789 chr14:22179772-22179790 chr14:22179775-22179788 chr14:22179775-22179788 |
| 4 | CTCF | chr14:22179340-22179490 | SK-N-SH_RA | brain: | n/a | n/a |
| 5 | CTCF | chr14:22179240-22179390 | GM06990 | 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 | chr14:22109038..22109779-chr14:22179252..22179808,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| TRAV2 | TF binding region |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10148566 | 0.99[ASN][1000 genomes] |
| rs10151114 | 0.95[ASN][1000 genomes] |
| rs12589185 | 0.96[ASN][1000 genomes] |
| rs12589962 | 0.96[ASN][1000 genomes] |
| rs12894518 | 0.92[ASN][1000 genomes] |
| rs17182761 | 0.96[ASN][1000 genomes] |
| rs2319875 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35762321 | 0.83[EUR][1000 genomes] |
| rs4513011 | 0.94[ASN][1000 genomes] |
| rs4528483 | 0.83[ASN][1000 genomes] |
| rs4628878 | 0.96[ASN][1000 genomes] |
| rs4982487 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs55654479 | 0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs59305233 | 0.92[AFR][1000 genomes] |
| rs7158141 | 0.96[ASN][1000 genomes] |
| rs72688056 | 0.92[AFR][1000 genomes] |
| rs8016911 | 0.95[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 | nsv1042309 | chr14:22042511-22866936 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 90 gene(s) | inside rSNPs | diseases |
| 2 | nsv456147 | chr14:22073473-22305071 | Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 3 | nsv563851 | chr14:22073473-22305071 | Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
| 4 | nsv510629 | chr14:22134425-22215842 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:22172600-22180600 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
