Variant report
Variant | rs12570771 |
---|---|
Chromosome Location | chr10:96443099-96443100 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr10:96443071-96443121 | Hela-S3 | cervix: | n/a |
2 | chr10:96443071-96443121 | GM12878 | blood: | n/a |
3 | chr10:96443071-96443121 | HRCEpiC | kidney: | n/a |
4 | chr10:96443071-96443121 | NHDF-neo | bronchial: | n/a |
5 | chr10:96443071-96443121 | ProgFib | skin: | n/a |
6 | chr10:96443071-96443121 | K562 | blood: | n/a |
7 | chr10:96443071-96443121 | AG09319 | gingival: | n/a |
8 | chr10:96443071-96443121 | HCT-116 | colon: | n/a |
9 | chr10:96443071-96443121 | HPAEpiC | pulmonary alveolar: | n/a |
10 | chr10:96443071-96443121 | HEK293 | kidney: | embryo |
11 | chr10:96443071-96443121 | AG04450 | lung: | fetal |
12 | chr10:96443071-96443121 | HAEpiC | amniotic membrane: | n/a |
13 | chr10:96443071-96443121 | HCPEpiC | choroid plexus: | n/a |
14 | chr10:96443071-96443121 | SKMC | muscle: | n/a |
15 | chr10:96443071-96443121 | NB4 | blood: | n/a |
16 | chr10:96443071-96443121 | SK-N-MC | brain: | n/a |
17 | chr10:96443071-96443121 | BE2_C | brain: | n/a |
18 | chr10:96443071-96443121 | A549 | lung: | n/a |
19 | chr10:96443071-96443121 | MCF-7 | breast: | n/a |
20 | chr10:96443071-96443121 | MCF10A-Er-Src | breast: | n/a |
21 | chr10:96443071-96443121 | AG09309 | skin: | n/a |
22 | chr10:96443071-96443121 | RPTEC | kidney: | n/a |
23 | chr10:96443071-96443121 | PrEC | prostate: | n/a |
24 | chr10:96443071-96443121 | HRPEpiC | eye: | n/a |
25 | chr10:96443071-96443121 | Jurkat | blood: | n/a |
26 | chr10:96443071-96443121 | CMK | blood: | n/a |
27 | chr10:96443071-96443121 | HL-60 | blood: | n/a |
28 | chr10:96443071-96443121 | ovcar-3 | ovarian: | n/a |
29 | chr10:96443071-96443121 | T-47D | breast: | n/a |
30 | chr10:96443071-96443121 | IMR90 | lung: | fetal |
31 | chr10:96443071-96443121 | SAEC | small airway: | n/a |
32 | chr10:96443071-96443121 | HCF | heart: | n/a |
33 | chr10:96443071-96443121 | SK-N-SH_RA | brain: | n/a |
34 | chr10:96443071-96443121 | NT2-D1 | testis: | n/a |
35 | chr10:96443071-96443121 | HIPEpiC | eye: | n/a |
36 | chr10:96443071-96443121 | AoSMC | blood vessel: | n/a |
37 | chr10:96443071-96443121 | GM12892 | blood: | n/a |
38 | chr10:96443071-96443121 | PANC-1 | pancreas: | n/a |
39 | chr10:96443071-96443121 | U87 | brain: | n/a |
40 | chr10:96443071-96443121 | SK-N-SH | brain: | n/a |
41 | chr10:96443071-96443121 | AG04449 | skin: | fetal |
42 | chr10:96443071-96443121 | NHBE | bronchial: | n/a |
43 | chr10:96443071-96443121 | GM19239 | blood: | n/a |
44 | chr10:96443071-96443121 | Caco-2 | colon: | n/a |
45 | chr10:96443071-96443121 | HepG2 | liver: | n/a |
46 | chr10:96443071-96443121 | HNPCEpiC | eye: | n/a |
47 | chr10:96443071-96443121 | HMEC | breast: | n/a |
48 | chr10:96443071-96443121 | LNCaP | prostate: | n/a |
49 | chr10:96443071-96443121 | BJ | skin: | n/a |
50 | chr10:96443071-96443121 | AG10803 | skin: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CYP2C19 | CpG island |
CYP2C18 | CpG island |
rs_ID | r2[population] |
---|---|
rs1042192 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1042194 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1048196 | 0.84[AFR][1000 genomes] |
rs10509676 | 0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs1065027 | 0.84[AFR][1000 genomes] |
rs11594492 | 0.84[AFR][1000 genomes] |
rs12569873 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12570829 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12571306 | 0.80[AFR][1000 genomes] |
rs12571421 | 0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12571533 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12572499 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12572917 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12762136 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12762370 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12767583 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12768009 | 0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12769205 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12770901 | 0.84[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs12772672 | 0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12773342 | 0.80[AFR][1000 genomes] |
rs12773527 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12773884 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12774450 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12774901 | 0.81[AFR][1000 genomes] |
rs12775283 | 0.82[AMR][1000 genomes] |
rs12775423 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12777311 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12777823 | 0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12778026 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12778216 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12781477 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12782132 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12783509 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12783988 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12784219 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12784245 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12785038 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1322179 | 0.86[AFR][1000 genomes] |
rs1326832 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1926711 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs1926712 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2025445 | 0.84[AFR][1000 genomes] |
rs2281890 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs2296680 | 0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs28399513 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs2860837 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2860838 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs34121168 | 0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs34151925 | 0.84[AFR][1000 genomes] |
rs34582766 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs34777815 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs34829812 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs35037138 | 0.88[AMR][1000 genomes] |
rs35134124 | 0.85[AFR][1000 genomes] |
rs35172334 | 0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs35390752 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs35751085 | 0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs35805353 | 0.85[AFR][1000 genomes] |
rs35835168 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs3758580 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs3818504 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4244285 | 0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs4255471 | 0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4532967 | 0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs4641393 | 0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4986894 | 0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs56229007 | 0.85[EUR][1000 genomes] |
rs58335703 | 0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs58447435 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6583954 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs66634733 | 0.82[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs67120915 | 0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs67941743 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7085420 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs7085563 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs7085890 | 0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7089349 | 0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7100783 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs71482318 | 0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs717238 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72816638 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs72816654 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7475739 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs749745 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7893282 | 0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7900135 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7904581 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7906139 | 0.82[ASN][1000 genomes] |
rs7907226 | 0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7911008 | 0.85[EUR][1000 genomes] |
rs7911654 | 0.81[AFR][1000 genomes] |
rs7919524 | 0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs932809 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9783239 | 0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv497859 | chr10:96058024-97027747 | Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 41 gene(s) | inside rSNPs | diseases |
2 | nsv934280 | chr10:96401297-96540495 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
3 | nsv1040106 | chr10:96405296-96514994 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
4 | nsv1040976 | chr10:96405296-96516804 | Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
5 | nsv551954 | chr10:96405329-96521249 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
6 | nsv522538 | chr10:96405329-96547463 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
7 | nsv1049225 | chr10:96405502-96516804 | Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
8 | nsv1052478 | chr10:96406313-96516804 | ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
9 | nsv1037516 | chr10:96407511-96516804 | Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
10 | nsv1047944 | chr10:96407825-96563288 | Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
11 | nsv1050653 | chr10:96407825-96634161 | Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
12 | nsv1049341 | chr10:96416809-96471236 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
13 | nsv1043604 | chr10:96424393-96486504 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
14 | nsv1037364 | chr10:96435433-96634161 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
15 | esv3380017 | chr10:96439904-96662339 | Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
16 | nsv1046308 | chr10:96441300-96633012 | Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:96435200-96444800 | Weak transcription | Gastric | stomach |
2 | chr10:96436000-96443400 | Enhancers | Fetal Intestine Large | intestine |
3 | chr10:96439600-96443200 | Enhancers | Rectal Mucosa Donor 31 | rectum |
4 | chr10:96440200-96443200 | Enhancers | Fetal Intestine Small | intestine |
5 | chr10:96441600-96443400 | Enhancers | Colonic Mucosa | Colon |
6 | chr10:96442000-96443200 | Enhancers | Rectal Mucosa Donor 29 | rectum |
7 | chr10:96442000-96443200 | Enhancers | Stomach Mucosa | stomach |
8 | chr10:96442200-96443200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
9 | chr10:96442400-96447000 | Active TSS | Liver | Liver |
10 | chr10:96442800-96443600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
11 | chr10:96443000-96443200 | Flanking Active TSS | Duodenum Mucosa | Duodenum |
12 | chr10:96443000-96443400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
13 | chr10:96443000-96443400 | Enhancers | NHEK | skin |
14 | chr10:96443000-96443600 | Enhancers | HUES64 Cell Line | embryonic stem cell |