Variant report
| Variant | rs2370738 |
|---|---|
| Chromosome Location | chr2:187881650-187881651 |
| allele | A/G |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:187867683..187871574-chr2:187879806..187883521,7 | K562 | blood: | |
| 2 | chr2:187873118..187875101-chr2:187880377..187882881,2 | K562 | blood: | |
| 3 | chr2:187867081..187871574-chr2:187878327..187884066,8 | K562 | blood: | |
| 4 | chr2:187880614..187882392-chr2:187883070..187885424,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224063 | Chromatin interaction |
| ENSG00000226553 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10168757 | 0.81[AFR][1000 genomes] |
| rs10197782 | 0.84[AFR][1000 genomes] |
| rs12693461 | 0.87[EUR][1000 genomes] |
| rs1386542 | 0.85[EUR][1000 genomes] |
| rs1601731 | 0.81[AFR][1000 genomes] |
| rs17754154 | 0.88[ASN][1000 genomes] |
| rs17754185 | 0.88[ASN][1000 genomes] |
| rs2599377 | 0.88[ASN][1000 genomes] |
| rs3843326 | 0.84[AFR][1000 genomes] |
| rs3845716 | 0.84[AFR][1000 genomes] |
| rs4667140 | 0.84[AFR][1000 genomes] |
| rs6736303 | 0.84[AFR][1000 genomes] |
| rs72901461 | 0.88[ASN][1000 genomes] |
| rs72901464 | 0.88[ASN][1000 genomes] |
| rs72901468 | 0.88[ASN][1000 genomes] |
| rs72901483 | 0.88[ASN][1000 genomes] |
| rs72901488 | 0.88[ASN][1000 genomes] |
| rs72901490 | 0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv949700 | chr2:187713412-188361211 | Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv528437 | chr2:187778830-187907901 | Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv999207 | chr2:187787121-187924667 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv536084 | chr2:187787121-187924667 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv875553 | chr2:187856937-188067355 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv875554 | chr2:187873808-187964942 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 7 | nsv834486 | chr2:187876328-188032965 | Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:187875800-187885200 | Weak transcription | Psoas Muscle | Psoas |
