Variant report
| Variant | rs1995749 |
|---|---|
| Chromosome Location | chr4:175143247-175143248 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:7)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
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| No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
|---|---|---|---|---|---|---|
| 1 | CTCF | chr4:175143200-175143350 | HBMEC | blood vessel: | n/a | n/a |
| 2 | CTCF | chr4:175143180-175143330 | HCFaa | heart: | n/a | n/a |
| 3 | RAD21 | chr4:175143206-175144180 | SK-N-SH | brain: | n/a | chr4:175143601-175143620 chr4:175143602-175143611 |
| 4 | CTCF | chr4:175143160-175143310 | HEEpiC | esophagus: | n/a | n/a |
| 5 | CTCF | chr4:175143240-175143390 | GM12875 | blood: | n/a | n/a |
| 6 | CTCF | chr4:175143240-175143390 | AG04450 | lung: | n/a | n/a |
| 7 | CTCF | chr4:175143193-175144187 | SK-N-SH | brain: | n/a | chr4:175143600-175143618 chr4:175143601-175143617 chr4:175143602-175143623 chr4:175143604-175143611 |
| No data |
(count:3 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000248174 | TF binding region |
rSNPs within LD-proxies of this variant (count:15)
| rs_ID | r2[population] |
|---|---|
| rs10034021 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11133035 | 0.91[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11946728 | 0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs13128257 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs13150997 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17291087 | 0.80[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs17291128 | 0.82[EUR][1000 genomes] |
| rs17291408 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs41279509 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs4695915 | 0.80[EUR][1000 genomes] |
| rs6553777 | 0.80[EUR][1000 genomes] |
| rs6824643 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs6851312 | 0.81[EUR][1000 genomes] |
| rs7661236 | 0.82[EUR][1000 genomes] |
| rs7669484 | 0.81[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | nsv1016910 | chr4:174952788-175349057 | Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 2 | nsv537363 | chr4:174952788-175349057 | Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv881449 | chr4:174984230-175225452 | Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 4 | nsv596234 | chr4:175053051-175361437 | Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1995749 | KIAA1712 | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:175140400-175147200 | Weak transcription | Colon Smooth Muscle | Colon |
