Variant report
| Variant | rs7809485 |
|---|---|
| Chromosome Location | chr7:117247443-117247444 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | FOS | chr7:117247423-117247798 | HUVEC | blood vessel: | n/a | chr7:117247666-117247678 chr7:117247669-117247676 chr7:117247667-117247676 chr7:117247668-117247676 chr7:117247666-117247677 chr7:117247668-117247677 |
| 2 | FOSL2 | chr7:117247390-117247932 | A549 | lung: | n/a | chr7:117247666-117247678 chr7:117247669-117247676 chr7:117247667-117247676 chr7:117247668-117247676 chr7:117247668-117247677 |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:58237960..58239522-chr7:117246298..117249075,2 | MCF-7 | breast: | |
| 2 | 7:115861595-115870968..7:117245849-117249704 | H1-hESC | embryonic stem cell: | embryo |
| 3 | 7:116544149-116547624..7:117245849-117249704 | H1-hESC | embryonic stem cell: | embryo |
| 4 | 7:117100350-117112126..7:117245849-117249704 | H1-hESC | embryonic stem cell: | embryo |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| CFTR | TF binding region |
| ENSG00000135269 | Chromatin interaction |
| ENSG00000001626 | Chromatin interaction |
| ENSG00000175215 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:100)
| rs_ID | r2[population] |
|---|---|
| rs10155917 | 1.00[ASN][1000 genomes] |
| rs10156138 | 1.00[ASN][1000 genomes] |
| rs10224175 | 1.00[ASN][1000 genomes] |
| rs10230259 | 1.00[ASN][1000 genomes] |
| rs10234329 | 1.00[ASN][1000 genomes] |
| rs10240521 | 1.00[ASN][1000 genomes] |
| rs10240654 | 1.00[ASN][1000 genomes] |
| rs10242827 | 1.00[ASN][1000 genomes] |
| rs10244810 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10246649 | 1.00[EUR][1000 genomes] |
| rs10249971 | 1.00[ASN][1000 genomes] |
| rs1025342 | 1.00[ASN][1000 genomes] |
| rs10255092 | 1.00[ASN][1000 genomes] |
| rs10258791 | 1.00[ASN][1000 genomes] |
| rs10262610 | 1.00[ASN][1000 genomes] |
| rs10262673 | 1.00[ASN][1000 genomes] |
| rs10264450 | 1.00[ASN][1000 genomes] |
| rs10264892 | 1.00[ASN][1000 genomes] |
| rs10266649 | 1.00[ASN][1000 genomes] |
| rs10270610 | 1.00[ASN][1000 genomes] |
| rs10276355 | 1.00[ASN][1000 genomes] |
| rs10278953 | 1.00[ASN][1000 genomes] |
| rs10487364 | 1.00[ASN][1000 genomes] |
| rs12536356 | 1.00[ASN][1000 genomes] |
| rs17139821 | 1.00[ASN][1000 genomes] |
| rs17450482 | 1.00[ASN][1000 genomes] |
| rs17544734 | 1.00[ASN][1000 genomes] |
| rs17545644 | 1.00[ASN][1000 genomes] |
| rs17547485 | 1.00[ASN][1000 genomes] |
| rs177071 | 1.00[ASN][1000 genomes] |
| rs1800130 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1800503 | 1.00[ASN][1000 genomes] |
| rs213972 | 1.00[ASN][1000 genomes] |
| rs2518872 | 1.00[ASN][1000 genomes] |
| rs254537 | 1.00[ASN][1000 genomes] |
| rs254538 | 1.00[ASN][1000 genomes] |
| rs28449716 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28472519 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28517401 | 1.00[ASN][1000 genomes] |
| rs34034651 | 1.00[EUR][1000 genomes] |
| rs34201995 | 0.96[EUR][1000 genomes] |
| rs34268361 | 1.00[ASN][1000 genomes] |
| rs34309075 | 0.96[EUR][1000 genomes] |
| rs34420782 | 1.00[ASN][1000 genomes] |
| rs34464201 | 0.96[EUR][1000 genomes] |
| rs34480179 | 0.96[EUR][1000 genomes] |
| rs34489981 | 0.89[EUR][1000 genomes] |
| rs34567454 | 0.96[EUR][1000 genomes] |
| rs34587451 | 0.96[EUR][1000 genomes] |
| rs34606983 | 1.00[ASN][1000 genomes] |
| rs34652497 | 0.83[EUR][1000 genomes] |
| rs34654194 | 1.00[ASN][1000 genomes] |
| rs34674313 | 0.96[EUR][1000 genomes] |
| rs34830471 | 0.96[EUR][1000 genomes] |
| rs34849722 | 0.83[EUR][1000 genomes] |
| rs34995970 | 0.96[EUR][1000 genomes] |
| rs35003065 | 1.00[ASN][1000 genomes] |
| rs35130797 | 1.00[ASN][1000 genomes] |
| rs35294574 | 0.96[EUR][1000 genomes] |
| rs35305858 | 0.96[EUR][1000 genomes] |
| rs35320768 | 0.96[EUR][1000 genomes] |
| rs35342599 | 1.00[ASN][1000 genomes] |
| rs35415299 | 1.00[ASN][1000 genomes] |
| rs35475211 | 1.00[EUR][1000 genomes] |
| rs35504264 | 0.96[EUR][1000 genomes] |
| rs35506750 | 0.96[EUR][1000 genomes] |
| rs35537814 | 0.96[EUR][1000 genomes] |
| rs35553213 | 0.96[EUR][1000 genomes] |
| rs35615558 | 1.00[ASN][1000 genomes] |
| rs35715578 | 1.00[ASN][1000 genomes] |
| rs35775845 | 1.00[ASN][1000 genomes] |
| rs35777371 | 1.00[ASN][1000 genomes] |
| rs35820454 | 1.00[ASN][1000 genomes] |
| rs35836271 | 0.96[EUR][1000 genomes] |
| rs35900505 | 0.96[EUR][1000 genomes] |
| rs35916162 | 0.96[EUR][1000 genomes] |
| rs35987553 | 1.00[ASN][1000 genomes] |
| rs35995554 | 1.00[ASN][1000 genomes] |
| rs36042090 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs36046385 | 0.83[EUR][1000 genomes] |
| rs36082161 | 1.00[ASN][1000 genomes] |
| rs4148717 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4285411 | 1.00[ASN][1000 genomes] |
| rs6466610 | 1.00[ASN][1000 genomes] |
| rs6943074 | 1.00[ASN][1000 genomes] |
| rs6943509 | 1.00[ASN][1000 genomes] |
| rs6961545 | 1.00[ASN][1000 genomes] |
| rs6963669 | 1.00[ASN][1000 genomes] |
| rs6965682 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6968747 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73480763 | 1.00[ASN][1000 genomes] |
| rs7779015 | 1.00[ASN][1000 genomes] |
| rs7795896 | 1.00[ASN][1000 genomes] |
| rs7799504 | 1.00[ASN][1000 genomes] |
| rs7802924 | 1.00[ASN][1000 genomes] |
| rs7808474 | 1.00[ASN][1000 genomes] |
| rs7812185 | 1.00[ASN][1000 genomes] |
| rs916727 | 1.00[ASN][1000 genomes] |
| rs916728 | 1.00[ASN][1000 genomes] |
| rs9886209 | 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 | nsv889083 | chr7:117203417-117256374 | Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv889086 | chr7:117214089-117252873 | Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:117244200-117252600 | Weak transcription | Dnd41 | blood |
| 2 | chr7:117244200-117253200 | Weak transcription | Rectal Smooth Muscle | rectum |
| 3 | chr7:117245000-117252800 | Weak transcription | Small Intestine | intestine |
| 4 | chr7:117245200-117294000 | Weak transcription | Pancreas | Pancrea |
| 5 | chr7:117245800-117256600 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 6 | chr7:117246400-117252000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 7 | chr7:117246400-117255600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 8 | chr7:117247000-117247600 | Genic enhancers | Fetal Intestine Large | intestine |
| 9 | chr7:117247000-117247600 | Enhancers | A549 | lung |
| 10 | chr7:117247000-117248000 | Enhancers | Duodenum Mucosa | Duodenum |
| 11 | chr7:117247200-117247600 | Genic enhancers | Fetal Intestine Small | intestine |
| 12 | chr7:117247200-117247600 | Enhancers | Gastric | stomach |
| 13 | chr7:117247400-117247800 | Enhancers | Liver | Liver |
