Variant report
| Variant | rs6554312 |
|---|---|
| Chromosome Location | chr4:56595732-56595733 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr4:56480747..56484464-chr4:56594012..56597947,4 | K562 | blood: | |
| 2 | chr4:56498450..56502811-chr4:56593362..56599516,6 | K562 | blood: | |
| 3 | chr4:56411840..56414684-chr4:56594475..56596628,2 | MCF-7 | breast: | |
| 4 | chr4:56501809..56503830-chr4:56593462..56596328,2 | K562 | blood: | |
| 5 | chr4:56593845..56596121-chr4:56598605..56600878,2 | K562 | blood: | |
| 6 | chr4:56588763..56591407-chr4:56594293..56596844,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000134852 | Chromatin interaction |
| ENSG00000272969 | Chromatin interaction |
| ENSG00000109255 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs12510765 | 1.00[ASN][1000 genomes] |
| rs4333263 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4412048 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4631105 | 1.00[ASN][1000 genomes] |
| rs4864552 | 1.00[ASN][1000 genomes] |
| rs4864562 | 1.00[ASN][1000 genomes] |
| rs4865031 | 1.00[ASN][1000 genomes] |
| rs6554299 | 1.00[ASN][1000 genomes] |
| rs6554309 | 1.00[ASN][1000 genomes] |
| rs6554311 | 1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6554314 | 1.00[ASN][1000 genomes] |
| rs6554317 | 1.00[ASN][1000 genomes] |
| rs6828640 | 1.00[ASN][1000 genomes] |
| rs6838362 | 1.00[ASN][1000 genomes] |
| rs6842779 | 1.00[ASN][1000 genomes] |
| rs6856478 | 1.00[ASN][1000 genomes] |
| rs73236158 | 1.00[ASN][1000 genomes] |
| rs7668437 | 1.00[ASN][1000 genomes] |
| rs7691573 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2755990 | chr4:56317136-57143037 | Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 2 | nsv10496 | chr4:56336946-56841137 | Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 3 | nsv998179 | chr4:56425126-56694339 | Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv932636 | chr4:56438618-56667329 | Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 5 | nsv879021 | chr4:56482750-56648713 | Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 6 | nsv1005845 | chr4:56522075-56980357 | Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
| 7 | esv3406311 | chr4:56580578-56840877 | ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:56595000-56601200 | Enhancers | Stomach Mucosa | stomach |
| 2 | chr4:56595600-56597600 | Flanking Active TSS | K562 | blood |
