Variant report
| Variant | rs2188836 |
|---|---|
| Chromosome Location | chr7:117635382-117635383 |
| allele | C/T |
| 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 | 7:117100350-117112126..7:117631407-117639825 | Hela-S3 | cervix: | |
| 2 | 7:116434729-116454408..7:117631407-117639825 | H1-hESC | embryonic stem cell: | embryo |
| 3 | 7:116849860-116864942..7:117631407-117639825 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 7:117511043-117514740..7:117631407-117639825 | H1-hESC | embryonic stem cell: | embryo |
| 5 | 7:116754962-116765597..7:117631407-117639825 | Hela-S3 | cervix: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000077063 | Chromatin interaction |
| ENSG00000004866 | Chromatin interaction |
| ENSG00000198898 | Chromatin interaction |
| ENSG00000001626 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:34)
| rs_ID | r2[population] |
|---|---|
| rs1013278 | 0.88[EUR][1000 genomes] |
| rs10226992 | 0.90[EUR][1000 genomes] |
| rs10230941 | 0.98[ASN][1000 genomes] |
| rs10231973 | 0.96[ASN][1000 genomes] |
| rs10237233 | 0.89[EUR][1000 genomes] |
| rs10240110 | 0.96[ASN][1000 genomes] |
| rs10249457 | 0.96[ASN][1000 genomes] |
| rs10255829 | 0.96[ASN][1000 genomes] |
| rs10264984 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10270826 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs10280709 | 0.87[EUR][1000 genomes] |
| rs10282032 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs12111806 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs12113919 | 0.87[EUR][1000 genomes] |
| rs13438572 | 0.87[EUR][1000 genomes] |
| rs13438629 | 0.96[ASN][1000 genomes] |
| rs17568511 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs17569137 | 0.96[ASN][1000 genomes] |
| rs2214230 | 0.98[ASN][1000 genomes] |
| rs2402273 | 0.87[EUR][1000 genomes] |
| rs2402295 | 0.89[EUR][1000 genomes] |
| rs28438696 | 0.87[EUR][1000 genomes] |
| rs28714277 | 0.90[EUR][1000 genomes] |
| rs61702433 | 0.87[ASN][1000 genomes] |
| rs739619 | 0.96[ASN][1000 genomes] |
| rs757038 | 0.96[ASN][1000 genomes] |
| rs7784849 | 0.87[EUR][1000 genomes] |
| rs7793280 | 0.90[EUR][1000 genomes] |
| rs7801876 | 0.87[EUR][1000 genomes] |
| rs8180706 | 0.96[ASN][1000 genomes] |
| rs8180812 | 0.96[ASN][1000 genomes] |
| rs916784 | 0.87[EUR][1000 genomes] |
| rs970185 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs989996 | 0.82[AFR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869971 | chr7:117420583-118274149 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:117632000-117637800 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
| 2 | chr7:117633400-117645400 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 3 | chr7:117634000-117638200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
