Variant report
| Variant | rs7965466 |
|---|---|
| Chromosome Location | chr12:124036188-124036189 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:96)
| rs_ID | r2[population] |
|---|---|
| rs1060638 | 1.00[ASN][1000 genomes] |
| rs11057302 | 0.84[EUR][1000 genomes] |
| rs11572914 | 1.00[ASN][1000 genomes] |
| rs11572916 | 1.00[ASN][1000 genomes] |
| rs11572919 | 1.00[ASN][1000 genomes] |
| rs11572921 | 1.00[ASN][1000 genomes] |
| rs11572928 | 1.00[ASN][1000 genomes] |
| rs11572929 | 1.00[ASN][1000 genomes] |
| rs11572931 | 1.00[ASN][1000 genomes] |
| rs11572961 | 1.00[ASN][1000 genomes] |
| rs11572965 | 1.00[ASN][1000 genomes] |
| rs11572970 | 1.00[ASN][1000 genomes] |
| rs11572992 | 1.00[ASN][1000 genomes] |
| rs11573002 | 1.00[ASN][1000 genomes] |
| rs11573003 | 1.00[ASN][1000 genomes] |
| rs11573005 | 1.00[ASN][1000 genomes] |
| rs11610013 | 0.83[EUR][1000 genomes] |
| rs11831129 | 1.00[ASN][1000 genomes] |
| rs11834369 | 0.84[EUR][1000 genomes] |
| rs11837236 | 0.84[EUR][1000 genomes] |
| rs12099981 | 0.84[EUR][1000 genomes] |
| rs12099986 | 0.84[EUR][1000 genomes] |
| rs1568031 | 1.00[ASN][1000 genomes] |
| rs1877365 | 0.84[EUR][1000 genomes] |
| rs1913847 | 1.00[ASN][1000 genomes] |
| rs2340691 | 0.84[EUR][1000 genomes] |
| rs28627432 | 1.00[ASN][1000 genomes] |
| rs28668364 | 1.00[ASN][1000 genomes] |
| rs28743126 | 1.00[ASN][1000 genomes] |
| rs35917561 | 1.00[ASN][1000 genomes] |
| rs4930715 | 0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56816130 | 1.00[ASN][1000 genomes] |
| rs57071951 | 1.00[ASN][1000 genomes] |
| rs58028686 | 1.00[ASN][1000 genomes] |
| rs58507743 | 1.00[ASN][1000 genomes] |
| rs58680194 | 1.00[ASN][1000 genomes] |
| rs58831452 | 1.00[ASN][1000 genomes] |
| rs58904890 | 1.00[ASN][1000 genomes] |
| rs59279556 | 1.00[ASN][1000 genomes] |
| rs59827616 | 1.00[ASN][1000 genomes] |
| rs60422010 | 1.00[ASN][1000 genomes] |
| rs60577371 | 1.00[ASN][1000 genomes] |
| rs61082817 | 1.00[ASN][1000 genomes] |
| rs61678733 | 0.84[EUR][1000 genomes] |
| rs6488881 | 0.86[EUR][1000 genomes] |
| rs6488885 | 1.00[ASN][1000 genomes] |
| rs6488889 | 1.00[ASN][1000 genomes] |
| rs7134190 | 1.00[ASN][1000 genomes] |
| rs7136101 | 0.84[EUR][1000 genomes] |
| rs7301377 | 0.84[EUR][1000 genomes] |
| rs7303554 | 0.84[EUR][1000 genomes] |
| rs7314792 | 0.87[AMR][1000 genomes] |
| rs7316613 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73414262 | 0.84[EUR][1000 genomes] |
| rs73414295 | 1.00[ASN][1000 genomes] |
| rs73416203 | 1.00[ASN][1000 genomes] |
| rs73416204 | 1.00[ASN][1000 genomes] |
| rs73416211 | 1.00[ASN][1000 genomes] |
| rs73416216 | 1.00[ASN][1000 genomes] |
| rs73416277 | 1.00[ASN][1000 genomes] |
| rs73416283 | 1.00[ASN][1000 genomes] |
| rs73416288 | 1.00[ASN][1000 genomes] |
| rs73416298 | 1.00[ASN][1000 genomes] |
| rs73416299 | 1.00[ASN][1000 genomes] |
| rs73416301 | 1.00[ASN][1000 genomes] |
| rs73418103 | 1.00[ASN][1000 genomes] |
| rs73418104 | 1.00[ASN][1000 genomes] |
| rs73418114 | 1.00[ASN][1000 genomes] |
| rs73418125 | 1.00[ASN][1000 genomes] |
| rs73418139 | 1.00[ASN][1000 genomes] |
| rs73418148 | 1.00[ASN][1000 genomes] |
| rs73418153 | 1.00[ASN][1000 genomes] |
| rs73418159 | 1.00[ASN][1000 genomes] |
| rs73418167 | 1.00[ASN][1000 genomes] |
| rs73418174 | 1.00[ASN][1000 genomes] |
| rs73418179 | 1.00[ASN][1000 genomes] |
| rs73418191 | 1.00[ASN][1000 genomes] |
| rs73420303 | 1.00[ASN][1000 genomes] |
| rs786428 | 0.84[EUR][1000 genomes] |
| rs786429 | 0.84[EUR][1000 genomes] |
| rs786431 | 0.84[EUR][1000 genomes] |
| rs786432 | 0.84[EUR][1000 genomes] |
| rs786433 | 0.82[EUR][1000 genomes] |
| rs786434 | 0.84[EUR][1000 genomes] |
| rs786435 | 0.84[EUR][1000 genomes] |
| rs786437 | 0.81[EUR][1000 genomes] |
| rs786438 | 0.84[EUR][1000 genomes] |
| rs786439 | 0.84[EUR][1000 genomes] |
| rs786450 | 0.84[EUR][1000 genomes] |
| rs7954782 | 0.84[EUR][1000 genomes] |
| rs7958153 | 0.84[EUR][1000 genomes] |
| rs7960812 | 0.84[EUR][1000 genomes] |
| rs7968040 | 0.86[EUR][1000 genomes] |
| rs7970545 | 0.81[EUR][1000 genomes] |
| rs7971779 | 0.84[EUR][1000 genomes] |
| rs952360 | 0.84[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1038841 | chr12:123757305-124087671 | Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| 2 | nsv541622 | chr12:123757305-124087671 | Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| 3 | nsv1050598 | chr12:123991646-124214332 | Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| 4 | nsv541623 | chr12:123991646-124214332 | Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 45 gene(s) | inside rSNPs | diseases |
| 5 | nsv498024 | chr12:123994372-124459856 | Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 63 gene(s) | inside rSNPs | diseases |
| 6 | esv2422416 | chr12:124009676-124085689 | Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:8)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7965466 | RP11-486O12.2 | cis | Muscle Skeletal | GTEx |
| rs7965466 | DDX55 | cis | Thyroid | GTEx |
| rs7965466 | RP11-486O12.2 | cis | Heart Left Ventricle | GTEx |
| rs7965466 | RP11-486O12.2 | cis | Esophagus Mucosa | GTEx |
| rs7965466 | DDX55 | cis | lung | GTEx |
| rs7965466 | RP11-486O12.2 | cis | Artery Aorta | GTEx |
| rs7965466 | RP11-486O12.2 | cis | Thyroid | GTEx |
| rs7965466 | RP11-486O12.2 | cis | Esophagus Muscularis | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:124034400-124039000 | Weak transcription | Primary B cells from cord blood | blood |
| 2 | chr12:124035600-124038000 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 3 | chr12:124036000-124037600 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 4 | chr12:124036000-124037600 | Enhancers | Primary neutrophils fromperipheralblood | blood |
