Variant report
| Variant | rs2930331 |
|---|---|
| Chromosome Location | chr7:140365611-140365612 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:140365461..140369460-chr7:140370034..140373881,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000146966 | Chromatin interaction |
| ENSG00000133597 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs10260676 | 0.88[ASN][1000 genomes] |
| rs1140034 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2364393 | 0.90[ASN][1000 genomes] |
| rs2364394 | 0.90[ASN][1000 genomes] |
| rs2364395 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs28517771 | 0.84[ASN][1000 genomes] |
| rs2907949 | 0.83[ASN][1000 genomes] |
| rs2907950 | 0.83[ASN][1000 genomes] |
| rs2930315 | 0.89[ASN][1000 genomes] |
| rs2930318 | 0.89[ASN][1000 genomes] |
| rs2930319 | 0.89[ASN][1000 genomes] |
| rs2968549 | 0.81[ASN][1000 genomes] |
| rs2968550 | 0.81[ASN][1000 genomes] |
| rs2968551 | 0.87[ASN][1000 genomes] |
| rs2968553 | 0.89[ASN][1000 genomes] |
| rs2968555 | 0.91[ASN][1000 genomes] |
| rs2968558 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2968559 | 0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4624945 | 0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4727011 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6464937 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6977834 | 0.81[ASN][1000 genomes] |
| rs73505645 | 0.84[ASN][1000 genomes] |
| rs73505647 | 0.82[ASN][1000 genomes] |
| rs7792746 | 0.82[ASN][1000 genomes] |
| rs7794857 | 0.90[ASN][1000 genomes] |
| rs7803697 | 0.81[ASN][1000 genomes] |
| rs7809339 | 0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv831157 | chr7:140241339-140426876 | Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 2 | esv3371455 | chr7:140362383-140366581 | Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2930331 | ADCK2 | Cis_1M | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
