Variant report
Variant | rs6753004 |
---|---|
Chromosome Location | chr2:54962723-54962724 |
allele | A/C |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:54951102..54953008-chr2:54959664..54962831,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000214595 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10169439 | 1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10175967 | 0.90[EUR][1000 genomes] |
rs10176359 | 0.86[CEU][hapmap] |
rs10188185 | 0.86[CEU][hapmap];0.84[EUR][1000 genomes] |
rs10194108 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs11883962 | 0.91[EUR][1000 genomes] |
rs11888644 | 0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11904679 | 0.85[CEU][hapmap] |
rs12713273 | 0.85[CEU][hapmap] |
rs12713276 | 0.91[EUR][1000 genomes] |
rs13419761 | 0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13428703 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17046108 | 0.85[CEU][hapmap] |
rs17046149 | 0.82[EUR][1000 genomes] |
rs17046257 | 0.93[CEU][hapmap];0.94[EUR][1000 genomes] |
rs2048370 | 0.86[CEU][hapmap] |
rs2229503 | 0.85[CEU][hapmap] |
rs2567834 | 0.88[ASN][1000 genomes] |
rs33946849 | 0.82[EUR][1000 genomes] |
rs34272251 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs34456795 | 0.88[EUR][1000 genomes] |
rs3739109 | 0.86[CEU][hapmap] |
rs58878579 | 0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6545435 | 0.85[CEU][hapmap] |
rs6545440 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6708082 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6732751 | 0.80[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6734445 | 0.85[CEU][hapmap] |
rs6740110 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6744586 | 0.87[EUR][1000 genomes] |
rs6752720 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs67909358 | 0.91[EUR][1000 genomes] |
rs7569127 | 0.86[CEU][hapmap] |
rs7582640 | 1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7584223 | 0.85[CEU][hapmap] |
rs9917248 | 0.84[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv33638 | chr2:54765256-55109455 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
2 | nsv582024 | chr2:54894649-54999712 | Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
3 | nsv1005449 | chr2:54938633-55129503 | Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
4 | nsv582025 | chr2:54960680-54973834 | Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:54954600-54965000 | Weak transcription | Fetal Intestine Small | intestine |
2 | chr2:54956800-54964800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr2:54956800-54964800 | Weak transcription | HepG2 | liver |
4 | chr2:54962600-54963400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |