Variant report
| Variant | rs11070772 |
|---|---|
| Chromosome Location | chr15:50694608-50694609 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr15:50689878..50691689-chr15:50693318..50695426,2 | MCF-7 | breast: | |
| 2 | chr15:50693897..50696676-chr15:50706925..50708431,2 | MCF-7 | breast: | |
| 3 | chr15:50694450..50696893-chr15:50706359..50708089,2 | MCF-7 | breast: | |
| 4 | chr15:50694439..50697389-chr15:50699551..50701389,2 | MCF-7 | breast: | |
| 5 | chr15:50689537..50691776-chr15:50694471..50696812,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs1056681 | 1.00[ASN][1000 genomes] |
| rs11070770 | 1.00[ASN][1000 genomes] |
| rs11855995 | 1.00[ASN][1000 genomes] |
| rs11857071 | 1.00[ASN][1000 genomes] |
| rs12440601 | 1.00[ASN][1000 genomes] |
| rs12903381 | 1.00[ASN][1000 genomes] |
| rs12909202 | 1.00[ASN][1000 genomes] |
| rs12917303 | 1.00[ASN][1000 genomes] |
| rs17509458 | 1.00[ASN][1000 genomes] |
| rs17598020 | 1.00[ASN][1000 genomes] |
| rs2013885 | 1.00[ASN][1000 genomes] |
| rs2033114 | 1.00[ASN][1000 genomes] |
| rs2414049 | 1.00[ASN][1000 genomes] |
| rs28450641 | 1.00[ASN][1000 genomes] |
| rs45508400 | 1.00[ASN][1000 genomes] |
| rs504781 | 1.00[ASN][1000 genomes] |
| rs62022563 | 1.00[ASN][1000 genomes] |
| rs62022564 | 1.00[ASN][1000 genomes] |
| rs62022565 | 1.00[ASN][1000 genomes] |
| rs62022567 | 1.00[ASN][1000 genomes] |
| rs62022569 | 1.00[ASN][1000 genomes] |
| rs62022570 | 1.00[ASN][1000 genomes] |
| rs6493426 | 1.00[ASN][1000 genomes] |
| rs6493439 | 0.84[EUR][1000 genomes] |
| rs677143 | 1.00[ASN][1000 genomes] |
| rs72738935 | 1.00[ASN][1000 genomes] |
| rs8034849 | 1.00[ASN][1000 genomes] |
| rs9920021 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1044277 | chr15:49921547-50702386 | Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 107 gene(s) | inside rSNPs | diseases |
| 2 | nsv542380 | chr15:49921547-50702386 | Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 107 gene(s) | inside rSNPs | diseases |
| 3 | nsv1045456 | chr15:50592472-51019873 | Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 121 gene(s) | inside rSNPs | diseases |
| 4 | nsv948579 | chr15:50645530-51045564 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 119 gene(s) | inside rSNPs | diseases |
| 5 | nsv524613 | chr15:50656449-50868779 | Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:22)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11070772 | CTD-3110H11.1 | cis | Nerve Tibial | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Stomach | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Thyroid | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Artery Tibial | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | lung | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Artery Aorta | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Adipose Subcutaneous | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Esophagus Mucosa | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Esophagus Muscularis | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Adipose Subcutaneous | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Heart Left Ventricle | GTEx |
| rs11070772 | GABPB1-AS1 | cis | lung | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Artery Tibial | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Esophagus Mucosa | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Muscle Skeletal | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Muscle Skeletal | GTEx |
| rs11070772 | CTD-3110H11.1 | cis | Esophagus Muscularis | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Nerve Tibial | GTEx |
| rs11070772 | GABPB1-AS1 | cis | Thyroid | GTEx |
| rs11070772 | GABPB2 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr15:50683800-50703800 | Weak transcription | K562 | blood |
| 2 | chr15:50686800-50699400 | Weak transcription | H9 Cell Line | embryonic stem cell |
