Variant report
Variant | rs1123541 |
---|---|
Chromosome Location | chr14:37768787-37768788 |
allele | A/G |
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] |
---|---|
rs10132119 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap] |
rs10134502 | 0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10135285 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs10139077 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap] |
rs10139938 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10140266 | 0.83[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10141058 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10145536 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10146056 | 0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap] |
rs10149217 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10150704 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs10150919 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10151106 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10220291 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11156943 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11156952 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap] |
rs11620965 | 0.82[CEU][hapmap] |
rs12436405 | 0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12886692 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12888204 | 0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12893236 | 0.83[CEU][hapmap] |
rs12894068 | 0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1546975 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs17106535 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs17106539 | 0.87[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs1950517 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap] |
rs1950524 | 0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1950527 | 0.81[CEU][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1950883 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1950884 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1950886 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1955938 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1955939 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs1955950 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap] |
rs1998140 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs2064669 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs2093119 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs2103890 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2145179 | 0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2180632 | 0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2415391 | 0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs28524861 | 0.89[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2899860 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap] |
rs34153734 | 0.84[EUR][1000 genomes] |
rs34169316 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs34844597 | 0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs35276662 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs35322850 | 0.84[YRI][hapmap] |
rs36134910 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes] |
rs3985275 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4274350 | 0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes] |
rs4349060 | 0.84[EUR][1000 genomes] |
rs4576980 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4900751 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4900820 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs61988339 | 0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs61989590 | 0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6571791 | 0.80[CEU][hapmap] |
rs714229 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs714230 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs7142673 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs7143494 | 0.87[CEU][hapmap] |
rs7143938 | 0.86[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes] |
rs7149939 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs7151222 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
rs7151497 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs7153180 | 0.82[CEU][hapmap] |
rs7161425 | 0.88[CEU][hapmap] |
rs72671734 | 0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs743077 | 0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs8004202 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs8004441 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs8009361 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs8012018 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs8018499 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs8019549 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs8181946 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs910509 | 0.91[CEU][hapmap];0.81[JPT][hapmap] |
rs9743535 | 0.85[EUR][1000 genomes];0.80[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv530038 | chr14:37590543-38336191 | Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
2 | nsv915783 | chr14:37607836-38002966 | Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
3 | nsv1036854 | chr14:37609535-38013533 | Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
4 | nsv542045 | chr14:37609535-38013533 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
5 | nsv901635 | chr14:37623177-37782273 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
6 | esv3528451 | chr14:37631483-37771365 | Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
7 | esv3527359 | chr14:37631504-37771435 | Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
8 | esv3370191 | chr14:37631508-37771354 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
9 | esv3527360 | chr14:37631521-37771311 | Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
10 | esv3528462 | chr14:37631535-37771345 | Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
11 | esv3528473 | chr14:37631543-37771255 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
12 | esv3527361 | chr14:37631554-37771408 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
13 | esv3528484 | chr14:37631599-37771228 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
14 | esv3527363 | chr14:37631608-37771230 | Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
15 | nsv901638 | chr14:37702799-37814824 | Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
16 | esv1797813 | chr14:37738197-37846877 | Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
17 | esv1820642 | chr14:37738197-37846877 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
18 | esv1822817 | chr14:37738197-37846877 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
19 | esv1851834 | chr14:37738197-37846877 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
20 | nsv901639 | chr14:37743583-38038468 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
21 | esv2617029 | chr14:37762732-37772615 | Weak transcription ZNF genes & repeats Strong transcription Enhancers | n/a | n/a | inside rSNPs | diseases |
22 | esv3337995 | chr14:37767601-37773099 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
23 | esv3392829 | chr14:37768401-37772299 | Weak transcription Enhancers | n/a | n/a | inside rSNPs | diseases |
24 | esv3427299 | chr14:37768626-37772574 | Weak transcription Enhancers | n/a | n/a | inside rSNPs | diseases |
25 | nsv511542 | chr14:37768769-37773666 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
26 | esv1813852 | chr14:37768769-37810699 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:37716000-37770600 | Weak transcription | A549 | lung |
2 | chr14:37752400-37796200 | Weak transcription | Skeletal Muscle Female | skeletal muscle |
3 | chr14:37754200-37781400 | Weak transcription | Colon Smooth Muscle | Colon |
4 | chr14:37759000-37810600 | Weak transcription | Psoas Muscle | Psoas |
5 | chr14:37761000-37778400 | Weak transcription | HUVEC | blood vessel |
6 | chr14:37762400-37776200 | Weak transcription | Fetal Lung | lung |
7 | chr14:37762600-37812400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr14:37763200-37778400 | Weak transcription | Ovary | ovary |
9 | chr14:37763200-37797400 | Weak transcription | Left Ventricle | heart |
10 | chr14:37763400-37773200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
11 | chr14:37765000-37777200 | Weak transcription | HepG2 | liver |