Variant report
Variant | rs13409933 |
---|---|
Chromosome Location | chr2:127992880-127992881 |
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 | chr2:127975205..127977314-chr2:127992465..127995136,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10167294 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10928764 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1143407 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11684068 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs11899601 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12613252 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12613254 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12613413 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12614320 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12617858 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12619391 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs13017103 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs13034157 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13390029 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs13403918 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13414676 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs13429925 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2134794 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2139142 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2276682 | 0.81[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs2276683 | 0.81[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs28807127 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs3088374 | 0.83[ASN][1000 genomes] |
rs34006114 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs34441363 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs34487399 | 0.92[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs34601617 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs34703177 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs35708549 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs3738948 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs3893313 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4150434 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4150492 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4150506 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4150514 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4300780 | 0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4359587 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4528711 | 0.88[EUR][1000 genomes] |
rs4662721 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4662724 | 0.84[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs58063879 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs59027829 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs6430937 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs6716392 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs6735779 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6738811 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs6747862 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs6752139 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs67771362 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs9752366 | 0.85[EUR][1000 genomes] |
rs9923 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1006112 | chr2:127830117-128032546 | Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
2 | esv2757832 | chr2:127830943-128006514 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
3 | esv2759090 | chr2:127830943-128006514 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
4 | nsv1011378 | chr2:127841930-128020546 | Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
5 | nsv999809 | chr2:127841930-128032546 | Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
6 | nsv1010669 | chr2:127848860-128032546 | Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
7 | nsv1003599 | chr2:127871183-128059407 | Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
8 | nsv535920 | chr2:127871183-128059407 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs13409933 | AC068282.3 | cis | Artery Tibial | GTEx |
rs13409933 | AC068282.3 | cis | Skin Sun Exposed Lower leg | GTEx |
rs13409933 | AC068282.3 | cis | Artery Aorta | GTEx |
rs13409933 | AC068282.3 | cis | Heart Left Ventricle | GTEx |
rs13409933 | MAP3K2 | cis | multi-tissue | Pritchard |
rs13409933 | AC068282.3 | cis | lung | GTEx |
rs13409933 | AC068282.3 | cis | Esophagus Mucosa | GTEx |
rs13409933 | AC068282.3 | cis | Thyroid | GTEx |
rs13409933 | AC068282.3 | cis | Muscle Skeletal | GTEx |
rs13409933 | AC068282.3 | cis | Whole Blood | GTEx |
rs13409933 | AC068282.3 | cis | Stomach | GTEx |
rs13409933 | AC068282.3 | cis | Adipose Subcutaneous | GTEx |
rs13409933 | AC068282.3 | cis | Esophagus Muscularis | GTEx |
rs13409933 | AC068282.3 | cis | Nerve Tibial | GTEx |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:127984600-128012800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr2:127989400-128013000 | Weak transcription | Pancreas | Pancrea |