Variant report
Variant | rs1590639 |
---|---|
Chromosome Location | chr1:75264485-75264486 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10161 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12125889 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12129513 | 0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs1574941 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17618340 | 0.98[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs2032968 | 1.00[CHD][hapmap] |
rs2345438 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs28535522 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs28588069 | 1.00[ASN][1000 genomes] |
rs28594379 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28640981 | 0.89[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs28804435 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs35497701 | 0.88[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs3845356 | 1.00[ASN][1000 genomes] |
rs3845357 | 1.00[ASN][1000 genomes] |
rs3889133 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs55895041 | 0.88[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs57880013 | 0.93[ASN][1000 genomes] |
rs6668736 | 0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs696119 | 1.00[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1011745 | chr1:74730942-75477618 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
2 | nsv535003 | chr1:74730942-75477618 | Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
3 | esv1851105 | chr1:75152186-75302921 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | nsv871743 | chr1:75235082-75714554 | Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs1590639 | CRYZ | cis | lesional skin | skin_eQTL |
rs1590639 | CRYZ | cis | cerebellum | SCAN |
rs1590639 | TYW3 | cis | parietal | SCAN |
rs1590639 | CRYZ | cis | uninvolved skin | skin_eQTL |
rs1590639 | CRYZ | cis | Nerve Tibial | GTEx |
rs1590639 | CRYZ | cis | Skin Sun Exposed Lower leg | GTEx |
rs1590639 | CRYZ | cis | parietal | SCAN |
rs1590639 | CRYZ | cis | Adipose Subcutaneous | GTEx |
rs1590639 | CRYZ | cis | multi-tissue | Pritchard |
rs1590639 | TYW3 | cis | cerebellum | SCAN |
rs1590639 | CRYZ | cis | lymphoblastoid | seeQTL |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:75262600-75264600 | Weak transcription | H1 Cell Line | embryonic stem cell |