Variant report
Variant | rs72996904 |
---|---|
Chromosome Location | chr19:21023071-21023072 |
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] |
---|---|
rs10402131 | 0.85[AFR][1000 genomes] |
rs10425326 | 0.81[AFR][1000 genomes] |
rs10425936 | 0.81[AFR][1000 genomes] |
rs1643764 | 0.85[AMR][1000 genomes] |
rs2545176 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545177 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs2545178 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs2545179 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545180 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545181 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545182 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs2545183 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs2545184 | 0.85[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545185 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2545186 | 0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs2545187 | 0.90[AMR][1000 genomes] |
rs2545190 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs2545191 | 0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs2545199 | 0.86[AMR][1000 genomes] |
rs2545209 | 0.86[AMR][1000 genomes] |
rs2545211 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs2545217 | 0.82[AMR][1000 genomes] |
rs2545220 | 0.86[AMR][1000 genomes] |
rs2545224 | 0.86[AMR][1000 genomes] |
rs2547131 | 0.82[AMR][1000 genomes] |
rs2547132 | 0.86[AMR][1000 genomes] |
rs2547133 | 0.86[AMR][1000 genomes] |
rs2547151 | 0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs2547158 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547160 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547164 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547172 | 0.90[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs2547176 | 0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547177 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547179 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547182 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2547183 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2560964 | 0.81[AFR][1000 genomes] |
rs2560965 | 0.81[AFR][1000 genomes] |
rs28798674 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs2909792 | 0.86[AMR][1000 genomes] |
rs36147228 | 0.81[AFR][1000 genomes] |
rs365590 | 0.85[AFR][1000 genomes] |
rs367380 | 0.85[AFR][1000 genomes] |
rs374762 | 0.81[AFR][1000 genomes] |
rs377534 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs3867194 | 0.85[AFR][1000 genomes] |
rs3867195 | 0.85[AFR][1000 genomes] |
rs397659 | 0.85[AFR][1000 genomes] |
rs399611 | 0.83[AFR][1000 genomes] |
rs4026047 | 0.81[AFR][1000 genomes] |
rs4026060 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs4026061 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs4026075 | 0.86[AMR][1000 genomes] |
rs416612 | 0.84[AMR][1000 genomes] |
rs422367 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs423985 | 0.81[AFR][1000 genomes] |
rs428980 | 0.81[AFR][1000 genomes] |
rs436921 | 0.81[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs437812 | 0.83[AFR][1000 genomes] |
rs438497 | 0.85[AFR][1000 genomes] |
rs441123 | 0.81[AFR][1000 genomes] |
rs441887 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs442442 | 0.84[AFR][1000 genomes] |
rs443899 | 0.85[AFR][1000 genomes] |
rs444905 | 0.85[AFR][1000 genomes] |
rs445408 | 0.85[AFR][1000 genomes] |
rs446398 | 0.83[AFR][1000 genomes] |
rs449866 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs451441 | 0.85[AFR][1000 genomes] |
rs453550 | 0.81[AFR][1000 genomes] |
rs55795389 | 0.85[AMR][1000 genomes] |
rs58224123 | 0.85[AFR][1000 genomes] |
rs592822 | 0.81[AFR][1000 genomes] |
rs597312 | 0.81[AFR][1000 genomes] |
rs597751 | 0.81[AFR][1000 genomes] |
rs604552 | 0.81[AFR][1000 genomes] |
rs604719 | 0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs61067458 | 0.85[AFR][1000 genomes] |
rs646196 | 0.81[AFR][1000 genomes] |
rs669424 | 0.81[AFR][1000 genomes] |
rs669804 | 0.81[AFR][1000 genomes] |
rs669823 | 0.81[AFR][1000 genomes] |
rs670308 | 0.81[AFR][1000 genomes] |
rs67666680 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs67816767 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs67914199 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs687480 | 0.81[AFR][1000 genomes] |
rs72996905 | 0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs73007004 | 0.85[AMR][1000 genomes] |
rs73007032 | 0.85[AMR][1000 genomes] |
rs73013290 | 0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs73020070 | 0.85[AMR][1000 genomes] |
rs73530585 | 0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv911325 | chr19:20151257-21071548 | ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 49 gene(s) | inside rSNPs | diseases |
2 | esv3447275 | chr19:20818886-21030779 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
3 | esv2752729 | chr19:20818886-21169554 | ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
4 | nsv1062776 | chr19:20818886-21273361 | Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
5 | nsv932110 | chr19:20818886-21278952 | Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic 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 |
6 | esv2763043 | chr19:20818886-21290543 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 32 gene(s) | inside rSNPs | diseases |
7 | nsv1067170 | chr19:20845947-21041038 | Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
8 | nsv458512 | chr19:20845947-21041350 | Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
9 | nsv578926 | chr19:20845947-21041350 | Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
10 | nsv578935 | chr19:20845947-21048883 | Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
11 | nsv578936 | chr19:20845947-21049204 | Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
12 | nsv1064103 | chr19:20845947-21062996 | ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
13 | nsv578942 | chr19:20899284-21049204 | ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
14 | nsv578944 | chr19:20946275-21048883 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
15 | nsv578945 | chr19:20980958-21041350 | Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers | TF binding regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
16 | nsv1063954 | chr19:21000562-21177577 | Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
17 | nsv578946 | chr19:21014403-21151796 | ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
18 | esv2763197 | chr19:21014999-21042459 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | TF binding regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
19 | nsv960808 | chr19:21019086-21030051 | Weak transcription ZNF genes & repeats | lncRNA | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr19:21019400-21024800 | ZNF genes & repeats | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
2 | chr19:21020800-21024200 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr19:21022400-21024000 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
4 | chr19:21022600-21023400 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
5 | chr19:21022600-21024000 | ZNF genes & repeats | H9 Derived Neuron Cultured Cells | ES cell derived |
6 | chr19:21022800-21024000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr19:21023000-21023200 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
8 | chr19:21023000-21023600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |