Variant report
| Variant | rs4930732 |
|---|---|
| Chromosome Location | chr12:124316091-124316092 |
| allele | A/G |
| 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:33)
| rs_ID | r2[population] |
|---|---|
| rs1022320 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs1022321 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs10744163 | 1.00[CHB][hapmap] |
| rs10846556 | 1.00[ASN][1000 genomes] |
| rs10846559 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs10846569 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11057355 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs11057358 | 1.00[ASN][1000 genomes] |
| rs1114628 | 1.00[CHB][hapmap] |
| rs11832329 | 1.00[ASN][1000 genomes] |
| rs11835233 | 1.00[ASN][1000 genomes] |
| rs11835252 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs1568027 | 1.00[ASN][1000 genomes] |
| rs1568029 | 1.00[ASN][1000 genomes] |
| rs1568030 | 1.00[CHB][hapmap] |
| rs2340692 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs2674504 | 1.00[ASN][1000 genomes] |
| rs2674506 | 1.00[ASN][1000 genomes] |
| rs34506612 | 1.00[ASN][1000 genomes] |
| rs34535130 | 1.00[ASN][1000 genomes] |
| rs34705855 | 1.00[ASN][1000 genomes] |
| rs4930728 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs4930731 | 1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs56399357 | 1.00[ASN][1000 genomes] |
| rs61953572 | 1.00[ASN][1000 genomes] |
| rs67861770 | 1.00[ASN][1000 genomes] |
| rs7136121 | 1.00[ASN][1000 genomes] |
| rs7137299 | 1.00[ASN][1000 genomes] |
| rs7137310 | 1.00[ASN][1000 genomes] |
| rs71458816 | 1.00[ASN][1000 genomes] |
| rs7303002 | 1.00[ASN][1000 genomes] |
| rs7965847 | 0.86[GIH][hapmap] |
| rs7973103 | 1.00[CHB][hapmap];1.00[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 | 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 |
| 2 | esv3358359 | chr12:124314599-124318997 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats | TF binding regionChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4930732 | TCTN2 | cis | cerebellum | SCAN |
| rs4930732 | TCTN2 | cis | parietal | SCAN |
| rs4930732 | LOC338799 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:124312600-124317400 | Weak transcription | Fetal Brain Female | brain |
| 2 | chr12:124314600-124319400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 3 | chr12:124315000-124318000 | Weak transcription | Fetal Kidney | kidney |
