Variant report
Variant | rs568412 |
---|---|
Chromosome Location | chr1:72168541-72168542 |
allele | A/G |
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:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:72166413..72168725-chr1:72192259..72193957,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10889923 | 0.85[CHB][hapmap];0.90[JPT][hapmap] |
rs11209815 | 0.86[CHB][hapmap];0.94[JPT][hapmap] |
rs11576565 | 0.89[CHB][hapmap];1.00[JPT][hapmap] |
rs12120761 | 0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12120769 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1213510 | 0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap] |
rs1213513 | 0.90[CHB][hapmap];0.84[JPT][hapmap] |
rs12136092 | 0.90[CHB][hapmap];0.95[JPT][hapmap] |
rs12401428 | 0.92[EUR][1000 genomes] |
rs12402398 | 0.80[AMR][1000 genomes] |
rs12404086 | 0.90[CHB][hapmap];0.95[JPT][hapmap] |
rs12563509 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs1350645 | 0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1350646 | 0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1537716 | 0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1577396 | 0.90[JPT][hapmap] |
rs1610385 | 0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1762732 | 0.84[JPT][hapmap] |
rs1889635 | 0.85[EUR][1000 genomes] |
rs1932178 | 0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2152219 | 0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs2422013 | 0.86[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs2422015 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2422016 | 0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2422017 | 0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2422019 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2422020 | 0.83[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2422021 | 0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes] |
rs2422022 | 0.81[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes] |
rs2781160 | 0.90[CHB][hapmap];0.94[JPT][hapmap] |
rs2794307 | 0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4146731 | 0.85[CHB][hapmap];0.90[JPT][hapmap] |
rs4650114 | 0.82[AMR][1000 genomes] |
rs479582 | 0.91[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs515545 | 0.94[EUR][1000 genomes] |
rs591031 | 0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs61159202 | 0.85[EUR][1000 genomes] |
rs627774 | 0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap] |
rs638508 | 0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap] |
rs6424438 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6424439 | 0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6424440 | 0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6688112 | 0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes] |
rs6696052 | 0.86[CHB][hapmap];0.90[JPT][hapmap] |
rs6704081 | 0.81[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes] |
rs717350 | 0.93[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs72677184 | 0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs72677193 | 0.88[ASN][1000 genomes] |
rs7522708 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
rs7529884 | 0.85[CHB][hapmap];0.90[JPT][hapmap] |
rs7538638 | 0.84[EUR][1000 genomes] |
rs915021 | 0.82[CHB][hapmap];0.90[JPT][hapmap] |
rs954299 | 0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs954300 | 0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs954301 | 0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs988786 | 0.85[CHB][hapmap];0.90[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv949599 | chr1:71655652-72327802 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
2 | nsv1007250 | chr1:71998391-72350683 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv534992 | chr1:71998391-72350683 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
4 | nsv948821 | chr1:72049987-72477221 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv1003446 | chr1:72060680-72419918 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv461884 | chr1:72077549-72238691 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | nsv546476 | chr1:72077549-72238691 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | nsv461895 | chr1:72079898-72206799 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
9 | nsv546477 | chr1:72079898-72206799 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
10 | nsv1006188 | chr1:72081620-72215373 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
11 | nsv534993 | chr1:72081620-72215373 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
12 | nsv817447 | chr1:72098815-72558020 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv1008210 | chr1:72099161-72374197 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | nsv533779 | chr1:72124095-72241965 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
15 | nsv830181 | chr1:72155983-72296578 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:72165000-72171200 | Weak transcription | Thymus | Thymus |
2 | chr1:72168400-72169200 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |