Variant report
| Variant | rs3094035 |
|---|---|
| Chromosome Location | chr6:30363136-30363137 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:30269685..30271838-chr6:30361381..30363519,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs28994665 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs3094034 | 0.86[EUR][1000 genomes] |
| rs3094036 | 0.86[EUR][1000 genomes] |
| rs3094049 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3094717 | 0.82[EUR][1000 genomes] |
| rs3130116 | 0.83[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs3130363 | 1.00[AMR][1000 genomes] |
| rs3132616 | 0.82[EUR][1000 genomes] |
| rs3132619 | 0.83[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1025667 | chr6:30292845-30638066 | Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 825 gene(s) | inside rSNPs | diseases |
| 2 | nsv969293 | chr6:30348821-30368580 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 3 | esv18372 | chr6:30359622-30363319 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv16525 | chr6:30361117-30364291 | Bivalent Enhancer Weak transcription Enhancers | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:16)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs3094035 | HLA-C | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-DQA1 | cis | multi-tissue | Pritchard |
| rs3094035 | BTN3A2 | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-DRB1 | cis | multi-tissue | Pritchard |
| rs3094035 | ZNF192 | cis | parietal | SCAN |
| rs3094035 | ZNF323 | cis | parietal | SCAN |
| rs3094035 | ZKSCAN3 | cis | parietal | SCAN |
| rs3094035 | ZNF192 | cis | cerebellum | SCAN |
| rs3094035 | HLA-G | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-DQB1 | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-A | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-H | cis | multi-tissue | Pritchard |
| rs3094035 | HLA-A | cis | brain | seeQTL |
| rs3094035 | HLA-A | trans | brain | seeQTL |
| rs3094035 | HIST1H2BM | cis | cerebellum | SCAN |
| rs3094035 | HLA-A | cis | lymphoblastoid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:30359800-30364600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
