Variant report
| Variant | rs2402120 |
|---|---|
| Chromosome Location | chr7:116457242-116457243 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:116454408-116459849..7:117100350-117112126 | H1-hESC | embryonic stem cell: | embryo |
| 2 | 7:115890993-115892266..7:116454408-116459849 | GM12878 | blood: | |
| 3 | 7:116454408-116459849..7:116754962-116765597 | Hela-S3 | cervix: | |
| 4 | 7:116454408-116459849..7:117432820-117434816 | H1-hESC | embryonic stem cell: | embryo |
| 5 | chr7:116452981..116454622-chr7:116455451..116457556,2 | K562 | blood: | |
| 6 | 7:115847372-115857098..7:116454408-116459849 | GM12878 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000077063 | Chromatin interaction |
| ENSG00000001626 | Chromatin interaction |
| ENSG00000004866 | Chromatin interaction |
| ENSG00000135269 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs13223756 | 0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap] |
| rs13239139 | 0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2073560 | 0.93[CEU][hapmap];0.85[CHB][hapmap] |
| rs2283053 | 0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2299440 | 0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs34084325 | 0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs34280975 | 0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs34525404 | 0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs34630907 | 0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35099490 | 0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35314984 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs35590186 | 0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs35678938 | 0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35685346 | 0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs35939549 | 0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs3801997 | 1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs3807997 | 0.93[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs3807999 | 0.80[CHD][hapmap] |
| rs62470772 | 0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs62470778 | 0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs73208193 | 0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv831107 | chr7:116414734-116649466 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:116455600-116468400 | Weak transcription | Liver | Liver |
