Variant report
| Variant | rs935537 |
|---|---|
| Chromosome Location | chr12:10032270-10032271 |
| allele | C/G |
| 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 | chr12:10020631..10023050-chr12:10030777..10032743,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000110852 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10219684 | 0.80[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.86[ASN][1000 genomes] |
| rs10844994 | 0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes] |
| rs10844998 | 0.87[ASN][1000 genomes] |
| rs10845000 | 0.85[YRI][hapmap] |
| rs1814494 | 0.82[AMR][1000 genomes];0.85[ASN][1000 genomes] |
| rs4285965 | 0.86[ASN][1000 genomes] |
| rs4287401 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4764045 | 0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4764046 | 0.87[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4764047 | 0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs5017882 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs5017883 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs5017884 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs5017885 | 0.84[ASN][1000 genomes] |
| rs5017886 | 0.84[ASN][1000 genomes] |
| rs5017887 | 0.87[ASN][1000 genomes] |
| rs7138292 | 0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7297667 | 0.86[ASN][1000 genomes] |
| rs7300903 | 0.86[ASN][1000 genomes] |
| rs7305724 | 0.85[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7312942 | 0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7313246 | 0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 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 | nsv1044587 | chr12:10029514-10123414 | Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv523050 | chr12:10031880-10124373 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:5)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs935537 | MFAP5 | cis | parietal | SCAN |
| rs935537 | C12orf33 | cis | cerebellum | SCAN |
| rs935537 | CLEC2A | cis | cerebellum | SCAN |
| rs935537 | KLRG1 | cis | parietal | SCAN |
| rs935537 | STYK1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:10025600-10033400 | Weak transcription | Primary hematopoietic stem cells | blood |
