Variant report
| Variant | rs6714635 |
|---|---|
| Chromosome Location | chr2:56593901-56593902 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:56591468..56594426-chr2:56642626..56645610,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs10175691 | 0.92[CHB][hapmap] |
| rs10200604 | 0.85[CHB][hapmap] |
| rs11125626 | 0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs11886381 | 0.92[CHB][hapmap];0.81[JPT][hapmap] |
| rs13021782 | 0.87[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs17047851 | 0.85[CHB][hapmap] |
| rs17047854 | 0.85[CHB][hapmap] |
| rs17047856 | 0.92[CHB][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs17268785 | 0.85[CHB][hapmap] |
| rs4672110 | 0.85[CHB][hapmap] |
| rs62164393 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6545572 | 0.85[CHB][hapmap] |
| rs6545574 | 0.81[CHB][hapmap] |
| rs6704684 | 0.85[CHB][hapmap] |
| rs6735003 | 0.85[CHB][hapmap] |
| rs6747380 | 0.85[CHB][hapmap] |
| rs6748308 | 0.85[CHB][hapmap] |
| rs6760269 | 0.85[CHB][hapmap] |
| rs7562381 | 0.85[CHB][hapmap] |
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 | nsv530516 | chr2:56447922-56633505 | Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv834093 | chr2:56538097-56708677 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv1004449 | chr2:56538460-56715861 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv874171 | chr2:56545845-56727178 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | nsv582032 | chr2:56551074-56599354 | Weak transcription Enhancers Flanking Active TSS Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6714635 | RPL23AP32 | cis | parietal | SCAN |
| rs6714635 | FANCL | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:56576000-56603000 | Weak transcription | HSMM | muscle |
| 2 | chr2:56576000-56613200 | Weak transcription | Left Ventricle | heart |
