Variant report
Variant | rs764369 |
---|---|
Chromosome Location | chr5:127826279-127826280 |
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] |
---|---|
rs10040416 | 0.82[EUR][1000 genomes] |
rs10520003 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11241962 | 1.00[ASN][1000 genomes] |
rs11241964 | 1.00[ASN][1000 genomes] |
rs11241965 | 1.00[ASN][1000 genomes] |
rs11948376 | 1.00[ASN][1000 genomes] |
rs11948920 | 1.00[ASN][1000 genomes] |
rs11949017 | 1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs11949649 | 1.00[ASN][1000 genomes] |
rs11949660 | 1.00[ASN][1000 genomes] |
rs11949692 | 1.00[ASN][1000 genomes] |
rs11950568 | 1.00[ASN][1000 genomes] |
rs11950625 | 1.00[ASN][1000 genomes] |
rs11951267 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11952247 | 1.00[ASN][1000 genomes] |
rs11952334 | 1.00[ASN][1000 genomes] |
rs11952524 | 1.00[ASN][1000 genomes] |
rs11952602 | 1.00[ASN][1000 genomes] |
rs11953201 | 1.00[ASN][1000 genomes] |
rs11954034 | 1.00[ASN][1000 genomes] |
rs11954070 | 1.00[ASN][1000 genomes] |
rs11955937 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11956467 | 1.00[ASN][1000 genomes] |
rs11956495 | 1.00[ASN][1000 genomes] |
rs11957280 | 1.00[ASN][1000 genomes] |
rs11957487 | 1.00[ASN][1000 genomes] |
rs11958508 | 1.00[ASN][1000 genomes] |
rs11958996 | 1.00[ASN][1000 genomes] |
rs11959560 | 1.00[ASN][1000 genomes] |
rs13153812 | 1.00[ASN][1000 genomes] |
rs13160701 | 1.00[ASN][1000 genomes] |
rs13168271 | 1.00[ASN][1000 genomes] |
rs13175872 | 0.93[YRI][hapmap] |
rs1435512 | 0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs17164083 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17164086 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17615636 | 0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17677244 | 1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
rs34012094 | 1.00[ASN][1000 genomes] |
rs34139509 | 1.00[ASN][1000 genomes] |
rs34615740 | 1.00[ASN][1000 genomes] |
rs34665677 | 1.00[ASN][1000 genomes] |
rs34881645 | 1.00[ASN][1000 genomes] |
rs35043622 | 1.00[ASN][1000 genomes] |
rs36003105 | 1.00[ASN][1000 genomes] |
rs36052309 | 1.00[ASN][1000 genomes] |
rs36071106 | 1.00[ASN][1000 genomes] |
rs36125852 | 1.00[ASN][1000 genomes] |
rs3792873 | 0.81[EUR][1000 genomes] |
rs3924302 | 1.00[ASN][1000 genomes] |
rs4133248 | 1.00[ASN][1000 genomes] |
rs4318822 | 1.00[ASN][1000 genomes] |
rs4339399 | 1.00[ASN][1000 genomes] |
rs4345355 | 1.00[ASN][1000 genomes] |
rs4365880 | 1.00[ASN][1000 genomes] |
rs4380709 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4386769 | 1.00[ASN][1000 genomes] |
rs4400171 | 0.80[EUR][1000 genomes] |
rs4410683 | 1.00[ASN][1000 genomes] |
rs4425555 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4425556 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4455613 | 1.00[ASN][1000 genomes] |
rs4493715 | 1.00[ASN][1000 genomes] |
rs4496752 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4557470 | 1.00[ASN][1000 genomes] |
rs4577751 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4580821 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4582335 | 1.00[ASN][1000 genomes] |
rs4620068 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4628037 | 1.00[ASN][1000 genomes] |
rs4628038 | 1.00[ASN][1000 genomes] |
rs4836374 | 1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs4836375 | 0.85[YRI][hapmap] |
rs55657505 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55683423 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55715053 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55770077 | 1.00[ASN][1000 genomes] |
rs55791343 | 1.00[ASN][1000 genomes] |
rs55839668 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55944506 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56018106 | 1.00[ASN][1000 genomes] |
rs56072924 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56173634 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56232757 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56766733 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs57454105 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58143160 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58295967 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs58955919 | 1.00[ASN][1000 genomes] |
rs59143127 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59567527 | 1.00[ASN][1000 genomes] |
rs59820839 | 0.82[EUR][1000 genomes] |
rs60324229 | 0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs60574263 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs61358597 | 1.00[ASN][1000 genomes] |
rs61375240 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62390696 | 1.00[ASN][1000 genomes] |
rs62390705 | 1.00[ASN][1000 genomes] |
rs62390715 | 1.00[ASN][1000 genomes] |
rs62390716 | 1.00[ASN][1000 genomes] |
rs62390718 | 1.00[ASN][1000 genomes] |
rs62390719 | 1.00[ASN][1000 genomes] |
rs62390724 | 1.00[ASN][1000 genomes] |
rs62390725 | 1.00[ASN][1000 genomes] |
rs62390726 | 1.00[ASN][1000 genomes] |
rs6595840 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs66899065 | 1.00[ASN][1000 genomes] |
rs67539441 | 1.00[ASN][1000 genomes] |
rs67941180 | 1.00[ASN][1000 genomes] |
rs6863062 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6863262 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6863380 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6863460 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6864449 | 1.00[ASN][1000 genomes] |
rs6865828 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6870737 | 1.00[ASN][1000 genomes] |
rs6870746 | 1.00[ASN][1000 genomes] |
rs6871698 | 1.00[ASN][1000 genomes] |
rs6873360 | 1.00[CEU][hapmap] |
rs6875600 | 1.00[ASN][1000 genomes] |
rs6876597 | 1.00[ASN][1000 genomes] |
rs6876609 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6877748 | 1.00[ASN][1000 genomes] |
rs6877872 | 1.00[ASN][1000 genomes] |
rs6877956 | 1.00[ASN][1000 genomes] |
rs6878062 | 1.00[ASN][1000 genomes] |
rs6878172 | 1.00[ASN][1000 genomes] |
rs6880762 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6885752 | 1.00[ASN][1000 genomes] |
rs6886451 | 1.00[ASN][1000 genomes] |
rs6891153 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6891166 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6892406 | 1.00[ASN][1000 genomes] |
rs6897170 | 1.00[ASN][1000 genomes] |
rs6898190 | 1.00[ASN][1000 genomes] |
rs73334912 | 1.00[ASN][1000 genomes] |
rs73346354 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348066 | 1.00[ASN][1000 genomes] |
rs73348070 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348077 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348078 | 1.00[ASN][1000 genomes] |
rs73348080 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348085 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348087 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348099 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348102 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348278 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348280 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348283 | 0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348287 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348295 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73348296 | 1.00[ASN][1000 genomes] |
rs73348299 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73350104 | 0.80[EUR][1000 genomes] |
rs73350106 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73350109 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73350115 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73350129 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73350134 | 1.00[ASN][1000 genomes] |
rs73350195 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73352205 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73352207 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73352225 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7443826 | 1.00[ASN][1000 genomes] |
rs7446246 | 1.00[ASN][1000 genomes] |
rs7446359 | 1.00[ASN][1000 genomes] |
rs7447218 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7700287 | 0.80[EUR][1000 genomes] |
rs7704921 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7709202 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7709476 | 1.00[ASN][1000 genomes] |
rs7709634 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7712769 | 1.00[ASN][1000 genomes] |
rs7714023 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7714465 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7714623 | 1.00[ASN][1000 genomes] |
rs7720190 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7724233 | 1.00[ASN][1000 genomes] |
rs7724383 | 1.00[ASN][1000 genomes] |
rs7725452 | 1.00[ASN][1000 genomes] |
rs7725949 | 1.00[ASN][1000 genomes] |
rs7727413 | 1.00[ASN][1000 genomes] |
rs7728409 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7730875 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7731176 | 0.81[EUR][1000 genomes] |
rs7732171 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7734405 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7734534 | 0.80[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7735831 | 1.00[ASN][1000 genomes] |
rs892864 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs968008 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv531991 | chr5:127624564-127966085 | Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
2 | nsv599698 | chr5:127744825-127850855 | Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' | Chromatin interactive regionmiRNA target site | n/a | inside rSNPs | diseases |
3 | nsv1015650 | chr5:127745955-127866566 | Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS | Chromatin interactive regionmiRNA target site | n/a | inside rSNPs | diseases |
4 | esv2763497 | chr5:127745955-127882468 | Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
5 | nsv530822 | chr5:127777365-127900742 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
6 | nsv427734 | chr5:127805281-128088632 | Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
7 | nsv1019560 | chr5:127814656-127873680 | Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | nsv537895 | chr5:127814656-127873680 | ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:127773400-127830000 | Weak transcription | NHEK | skin |
2 | chr5:127784000-127826800 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
3 | chr5:127796400-127826600 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
4 | chr5:127800400-127845600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr5:127800800-127827000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr5:127803400-127839200 | Weak transcription | Fetal Stomach | stomach |
7 | chr5:127806400-127830400 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
8 | chr5:127806400-127847000 | Weak transcription | NHDF-Ad | bronchial |
9 | chr5:127806600-127827000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
10 | chr5:127806600-127839600 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
11 | chr5:127806600-127839600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
12 | chr5:127806600-127839600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
13 | chr5:127810800-127839400 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
14 | chr5:127811000-127835200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
15 | chr5:127816400-127836600 | Weak transcription | Placenta | Placenta |
16 | chr5:127819000-127827000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
17 | chr5:127820800-127827000 | Weak transcription | Fetal Heart | heart |
18 | chr5:127823000-127826600 | Weak transcription | Muscle Satellite Cultured Cells | -- |
19 | chr5:127823000-127839200 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
20 | chr5:127824000-127835800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
21 | chr5:127824800-127853800 | Weak transcription | Placenta Amnion | Placenta Amnion |
22 | chr5:127825000-127827400 | Genic enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
23 | chr5:127825800-127827000 | Weak transcription | HUVEC | blood vessel |
24 | chr5:127826200-127832800 | Weak transcription | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
25 | chr5:127826200-127859800 | Weak transcription | NH-A | brain |