Variant report
Variant | rs4679651 |
---|---|
Chromosome Location | chr3:60256293-60256294 |
allele | A/G |
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 | chr3:60251080..60254500-chr3:60254648..60256843,3 | K562 | blood: | |
2 | chr3:60255084..60257458-chr3:60258706..60260675,3 | K562 | blood: | |
3 | chr3:60250531..60257484-chr3:60260695..60265801,11 | K562 | blood: | |
4 | chr3:60256070..60258308-chr3:60290805..60292864,2 | K562 | blood: | |
5 | chr3:60251900..60257769-chr3:60262692..60266340,5 | K562 | blood: | |
6 | chr3:60253037..60257484-chr3:60258010..60262494,9 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11130761 | 0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11130762 | 0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11130763 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12487617 | 0.81[EUR][1000 genomes] |
rs12487741 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs12492065 | 1.00[CEU][hapmap];0.82[CHB][hapmap] |
rs12494319 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs12633077 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12633119 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12633138 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12636197 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12638410 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12638426 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13061155 | 1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap] |
rs1390766 | 0.83[YRI][hapmap];0.81[EUR][1000 genomes] |
rs17062684 | 1.00[CEU][hapmap];0.81[CHB][hapmap] |
rs1845898 | 0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs1948560 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1948561 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs2132608 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs35289739 | 0.84[EUR][1000 genomes] |
rs4393861 | 0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4679520 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs4679521 | 1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs4679522 | 1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs4679523 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs4679650 | 0.94[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs62238538 | 0.82[EUR][1000 genomes] |
rs62248468 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs62248469 | 0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs62248470 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs62248471 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6446117 | 0.82[CEU][hapmap] |
rs67048609 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6771240 | 0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs67994115 | 0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs71313762 | 0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs726692 | 0.94[CEU][hapmap];0.82[CHB][hapmap] |
rs726693 | 0.94[CEU][hapmap];0.87[CHB][hapmap] |
rs9835376 | 0.84[CEU][hapmap] |
rs9839805 | 1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs9849664 | 0.94[CEU][hapmap] |
rs9855582 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs9865210 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs9876544 | 1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs9883016 | 1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1014983 | chr3:59884024-60558331 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | nsv590387 | chr3:59890976-60481459 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | esv2752010 | chr3:60067396-60288428 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv1009063 | chr3:60067866-60277128 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1013919 | chr3:60067866-60284882 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
6 | nsv519855 | chr3:60068730-60276722 | Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv460566 | chr3:60068730-60276722 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
8 | nsv460567 | chr3:60068730-60276722 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv590390 | chr3:60068730-60276722 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv590391 | chr3:60068730-60277709 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv1008586 | chr3:60070974-60258108 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
12 | nsv536576 | chr3:60070974-60258108 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
13 | nsv1009971 | chr3:60070974-60397331 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
14 | nsv1008267 | chr3:60071947-60264461 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
15 | nsv1007798 | chr3:60071947-60277128 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
16 | esv2763751 | chr3:60071959-60292312 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
17 | esv2752011 | chr3:60073153-60288428 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
18 | nsv432421 | chr3:60073153-60288428 | Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
19 | nsv529602 | chr3:60088353-60830769 | Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
20 | nsv1003632 | chr3:60095363-60258108 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
21 | nsv536577 | chr3:60095363-60258108 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
22 | nsv1010969 | chr3:60124962-60425297 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
23 | nsv834708 | chr3:60156091-60305452 | Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
24 | nsv876841 | chr3:60189471-60272317 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
25 | esv2422232 | chr3:60192201-60334555 | Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
26 | nsv876843 | chr3:60196537-60269948 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
27 | nsv590393 | chr3:60217330-60276722 | Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:60254200-60263800 | Weak transcription | Aorta | Aorta |
2 | chr3:60256200-60257400 | Enhancers | K562 | blood |