Variant report
| Variant | rs7673114 |
|---|---|
| Chromosome Location | chr4:175143636-175143637 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:181)
- 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 |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:175143577..175144084-chr4:175239865..175240621,2 | K562 | blood: | |
| 2 | chr4:175143534..175144341-chr4:175180041..175181006,2 | MCF-7 | breast: | |
| 3 | chr4:175126822..175128871-chr4:175141864..175143664,2 | K562 | blood: | |
| 4 | chr4:175137442..175140324-chr4:175142017..175143698,2 | K562 | blood: | |
| 5 | chr4:175143195..175144498-chr4:175239947..175241349,5 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000248174 | TF binding region |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs13137178 | 0.82[ASN][1000 genomes] |
| rs17060404 | 0.82[ASN][1000 genomes] |
| rs35689614 | 0.80[ASN][1000 genomes] |
| rs6840664 | 0.82[ASN][1000 genomes] |
| rs7671444 | 0.82[ASN][1000 genomes] |
| rs7696841 | 0.82[ASN][1000 genomes] |
| rs885379 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs906570 | 0.84[ASN][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 |
|---|---|---|---|---|
| rs7673114 | KIAA1712 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:175140400-175147200 | Weak transcription | Colon Smooth Muscle | Colon |
| 2 | chr4:175143600-175146800 | Weak transcription | Liver | Liver |
