Variant report
| Variant | rs17361889 |
|---|---|
| Chromosome Location | chr7:16304079-16304080 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:10)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | POLR2A | chr7:16303542-16306140 | K562 | blood: | n/a | n/a |
| 2 | EP300 | chr7:16303669-16304244 | K562 | blood: | n/a | chr7:16304068-16304078 |
| 3 | IRF1 | chr7:16303496-16305947 | K562 | blood: | n/a | n/a |
| 4 | POLR2A | chr7:16303735-16306526 | K562 | blood: | n/a | n/a |
| 5 | IRF1 | chr7:16303775-16305608 | K562 | blood: | n/a | n/a |
| 6 | JUN | chr7:16303638-16310076 | K562 | blood: | n/a | chr7:16307130-16307142 chr7:16304208-16304216 chr7:16304204-16304215 chr7:16305975-16305987 chr7:16304206-16304218 |
| 7 | POLR2A | chr7:16303891-16306881 | K562 | blood: | n/a | n/a |
| 8 | POLR2A | chr7:16303647-16309801 | K562 | blood: | n/a | n/a |
| 9 | POLR2A | chr7:16303867-16306095 | K562 | blood: | n/a | n/a |
| 10 | TEAD4 | chr7:16304056-16306094 | K562 | blood: | n/a | n/a |
| No data |
(count:4 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:16302626..16306339-chr7:16456665..16460333,5 | K562 | blood: | |
| 2 | chr7:16302978..16309646-chr7:16456908..16462647,13 | K562 | blood: | |
| 3 | chr7:16303209..16307181-chr7:16682528..16687363,4 | K562 | blood: | |
| 4 | chr7:16302428..16304569-chr7:16686662..16689057,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ISPD-AS1 | TF binding region |
| ENSG00000136261 | Chromatin interaction |
| ENSG00000106524 | Chromatin interaction |
| ENSG00000214960 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs10264415 | 0.98[ASN][1000 genomes] |
| rs10464285 | 1.00[YRI][hapmap] |
| rs1295129 | 0.95[ASN][1000 genomes] |
| rs1527209 | 0.90[ASN][1000 genomes] |
| rs17361790 | 0.89[CEU][hapmap] |
| rs17459166 | 0.88[CEU][hapmap] |
| rs2214626 | 0.82[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs56024841 | 0.89[ASN][1000 genomes] |
| rs56279207 | 0.82[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs62440406 | 0.92[ASN][1000 genomes] |
| rs62440407 | 0.95[ASN][1000 genomes] |
| rs62440450 | 0.99[ASN][1000 genomes] |
| rs62440451 | 0.98[ASN][1000 genomes] |
| rs6956986 | 0.88[ASN][1000 genomes] |
| rs6968510 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6974124 | 0.87[ASN][1000 genomes] |
| rs7782485 | 0.82[AFR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1016642 | chr7:15884061-16799788 | Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 56 gene(s) | inside rSNPs | diseases |
| 2 | nsv948950 | chr7:16168925-16395434 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 3 | esv2757214 | chr7:16236162-16334228 | Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 4 | esv2759514 | chr7:16236162-16527390 | Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 5 | esv34298 | chr7:16251754-16324185 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 6 | nsv1022388 | chr7:16251992-16431864 | Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 7 | nsv1017498 | chr7:16262300-16313476 | Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 8 | nsv1022814 | chr7:16262300-16339988 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 9 | nsv470133 | chr7:16269632-16312056 | Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 10 | nsv887743 | chr7:16271621-16304817 | Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 11 | esv2758105 | chr7:16272822-16527390 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 12 | nsv869966 | chr7:16279782-16307959 | Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:16275000-16304400 | Weak transcription | Fetal Lung | lung |
| 2 | chr7:16300200-16308400 | Weak transcription | Fetal Heart | heart |
| 3 | chr7:16301400-16304200 | Active TSS | K562 | blood |
| 4 | chr7:16303600-16305200 | Enhancers | Liver | Liver |
