Variant report
| Variant | rs2299357 |
|---|---|
| Chromosome Location | chr7:103310001-103310002 |
| allele | C/T |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:103305325..103307446-chr7:103308405..103311533,3 | K562 | blood: | |
| 2 | chr7:103308135..103310700-chr7:103389205..103391721,2 | K562 | blood: | |
| 3 | chr7:103309641..103312329-chr7:103801017..103803175,2 | K562 | blood: | |
| 4 | chr7:103297764..103300699-chr7:103309943..103311774,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs12705138 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13223067 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2191702 | 0.81[JPT][hapmap] |
| rs2237631 | 1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2299355 | 0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2299356 | 1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes] |
| rs2299366 | 0.81[EUR][1000 genomes] |
| rs6961793 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs722613 | 0.82[CEU][hapmap];0.81[EUR][1000 genomes] |
| rs995450 | 0.84[CEU][hapmap];0.82[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv491911 | chr7:102967150-103403622 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| 2 | nsv831085 | chr7:103140672-103342388 | Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv427799 | chr7:103250733-103454202 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv1835816 | chr7:103255144-103354223 | Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv933440 | chr7:103301959-103312307 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv933934 | chr7:103301959-103322483 | Enhancers Weak transcription Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:103305000-103313400 | Weak transcription | HepG2 | liver |





