Variant report
Variant | rs4606860 |
---|---|
Chromosome Location | chr19:21393285-21393286 |
allele | C/T |
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 | chr19:21392274..21393855-chr19:21395475..21398127,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10416988 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10417249 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10422057 | 0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11665921 | 0.92[ASN][1000 genomes] |
rs12611085 | 0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12611135 | 0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12976375 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1445847 | 0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1620157 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1645791 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1645804 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1781860 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1781861 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1781862 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1781879 | 0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1781880 | 0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1937811 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2021432 | 0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2042985 | 0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2081183 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2081186 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2081187 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2081188 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs2113136 | 0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2259655 | 0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs250003 | 0.88[CHB][hapmap];0.94[JPT][hapmap] |
rs29703 | 0.82[ASN][1000 genomes] |
rs29705 | 0.82[ASN][1000 genomes] |
rs388229 | 0.82[CHB][hapmap] |
rs4121277 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4280382 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4305209 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4411627 | 0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4468754 | 0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs4482412 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4485500 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4493182 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs455492 | 0.88[ASN][1000 genomes] |
rs4560042 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4609982 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs57740 | 0.85[CHB][hapmap];0.82[JPT][hapmap] |
rs584725 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs594638 | 0.89[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs617145 | 0.82[EUR][1000 genomes] |
rs625209 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs634249 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs634661 | 0.89[EUR][1000 genomes] |
rs636752 | 0.89[EUR][1000 genomes] |
rs637308 | 0.89[EUR][1000 genomes] |
rs6511207 | 0.82[ASN][1000 genomes] |
rs6511209 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511210 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511211 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511212 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6511214 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs6511215 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs660551 | 0.87[EUR][1000 genomes] |
rs661267 | 0.89[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs663416 | 0.89[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs665561 | 0.89[EUR][1000 genomes] |
rs669038 | 0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs673889 | 0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs675130 | 0.89[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs689249 | 0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7245597 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7246432 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7247730 | 0.81[ASN][1000 genomes] |
rs7247871 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7247882 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7248088 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7250372 | 0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7251075 | 0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7254835 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7254957 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7257196 | 0.91[ASN][1000 genomes] |
rs7257208 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7259368 | 0.88[ASN][1000 genomes] |
rs7260451 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs8108314 | 0.86[ASN][1000 genomes] |
rs8111169 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs9749536 | 0.92[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3385528 | chr19:21030777-21495566 | Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
2 | esv3399352 | chr19:21232738-21423323 | Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
3 | esv3518033 | chr19:21278465-21747567 | Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
4 | esv3518034 | chr19:21278465-21747567 | ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
5 | esv3414204 | chr19:21301761-21839451 | ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 44 gene(s) | inside rSNPs | diseases |
6 | nsv911414 | chr19:21355473-21454672 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
7 | esv2762988 | chr19:21384837-21400142 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | nsv578950 | chr19:21388995-21477431 | Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
9 | nsv911415 | chr19:21388995-21487170 | ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
10 | nsv911416 | chr19:21388995-21548211 | Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
11 | nsv911417 | chr19:21388995-21564001 | Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
12 | nsv911418 | chr19:21390608-21454672 | ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv517759 | chr19:21391844-21420882 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
14 | nsv911419 | chr19:21391844-21487170 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:21389600-21397600 | Weak transcription | Ovary | ovary |
2 | chr19:21392800-21393600 | Enhancers | Pancreas | Pancrea |
3 | chr19:21393000-21393600 | Bivalent Enhancer | HepG2 | liver |
4 | chr19:21393200-21393600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr19:21393200-21393600 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr19:21393200-21394200 | Enhancers | Stomach Mucosa | stomach |