Variant report
| Variant | rs7671444 |
|---|---|
| Chromosome Location | chr4:175143494-175143495 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:72)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| 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:27)
| rs_ID | r2[population] |
|---|---|
| rs10434410 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs10520278 | 0.80[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10520279 | 0.95[JPT][hapmap];0.80[ASN][1000 genomes] |
| rs13122347 | 0.95[JPT][hapmap];0.82[ASN][1000 genomes] |
| rs13137178 | 0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1396193 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs17060395 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs17060404 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17060428 | 0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs17060454 | 0.91[JPT][hapmap];0.85[ASN][1000 genomes] |
| rs35190385 | 0.85[ASN][1000 genomes] |
| rs35593724 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs35689614 | 0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs36081616 | 0.80[ASN][1000 genomes] |
| rs62335793 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs62335798 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs6553781 | 0.95[JPT][hapmap] |
| rs66919862 | 0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs6840664 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs72621998 | 0.81[ASN][1000 genomes] |
| rs7673114 | 0.82[ASN][1000 genomes] |
| rs7684619 | 0.80[ASN][1000 genomes] |
| rs7696841 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs885379 | 0.81[ASN][1000 genomes] |
| rs906569 | 0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs906570 | 0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs954927 | 0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| 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 |
|---|---|---|---|---|
| rs7671444 | KIAA1712 | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:175140400-175147200 | Weak transcription | Colon Smooth Muscle | Colon |
| 2 | chr4:175143400-175143600 | Enhancers | Liver | Liver |
