Variant report
Variant | rs56022581 |
---|---|
Chromosome Location | chr3:191178814-191178815 |
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 | chr3:191178814-191178864 | HEK293 | kidney: | embryo |
2 | chr3:191178814-191178864 | NH-A | brain: | n/a |
3 | chr3:191178814-191178864 | AG09319 | gingival: | n/a |
4 | chr3:191178814-191178864 | Jurkat | blood: | n/a |
5 | chr3:191178814-191178864 | BE2_C | brain: | n/a |
6 | chr3:191178814-191178864 | GM12892 | blood: | n/a |
7 | chr3:191178814-191178864 | IMR90 | lung: | fetal |
8 | chr3:191178814-191178864 | PrEC | prostate: | n/a |
9 | chr3:191178814-191178864 | HNPCEpiC | eye: | n/a |
10 | chr3:191178814-191178864 | HCT-116 | colon: | n/a |
11 | chr3:191178814-191178864 | U87 | brain: | n/a |
12 | chr3:191178814-191178864 | HCM | heart: | n/a |
13 | chr3:191178814-191178864 | HEEpiC | esophagus: | n/a |
14 | chr3:191178814-191178864 | SAEC | small airway: | n/a |
15 | chr3:191178814-191178864 | HRPEpiC | eye: | n/a |
16 | chr3:191178814-191178864 | MCF10A-Er-Src | breast: | n/a |
17 | chr3:191178814-191178864 | HRE | kidney: | n/a |
18 | chr3:191178814-191178864 | A549 | lung: | n/a |
19 | chr3:191178814-191178864 | ECC-1 | luminal epithelium: | n/a |
20 | chr3:191178814-191178864 | ovcar-3 | ovarian: | n/a |
21 | chr3:191178814-191178864 | HMEC | breast: | n/a |
22 | chr3:191178814-191178864 | HRCEpiC | kidney: | n/a |
23 | chr3:191178814-191178864 | AG09309 | skin: | n/a |
24 | chr3:191178814-191178864 | T-47D | breast: | n/a |
25 | chr3:191178814-191178864 | GM06990 | blood: | n/a |
26 | chr3:191178814-191178864 | NB4 | blood: | n/a |
27 | chr3:191178814-191178864 | GM12891 | blood: | n/a |
28 | chr3:191178814-191178864 | HAEpiC | amniotic membrane: | n/a |
29 | chr3:191178814-191178864 | Caco-2 | colon: | n/a |
30 | chr3:191178814-191178864 | AoSMC | blood vessel: | n/a |
31 | chr3:191178814-191178864 | NHBE | bronchial: | n/a |
32 | chr3:191178814-191178864 | BJ | skin: | n/a |
33 | chr3:191178814-191178864 | HCPEpiC | choroid plexus: | n/a |
34 | chr3:191178814-191178864 | MCF-7 | breast: | n/a |
35 | chr3:191178814-191178864 | RPTEC | kidney: | n/a |
36 | chr3:191178814-191178864 | AG04450 | lung: | fetal |
37 | chr3:191178814-191178864 | LNCaP | prostate: | n/a |
38 | chr3:191178814-191178864 | GM12878 | blood: | n/a |
39 | chr3:191178814-191178864 | HepG2 | liver: | n/a |
40 | chr3:191178814-191178864 | AG04449 | skin: | fetal |
41 | chr3:191178814-191178864 | HUVEC | blood vessel: | n/a |
42 | chr3:191178814-191178864 | PFSK-1 | brain: | n/a |
43 | chr3:191178814-191178864 | ProgFib | skin: | n/a |
44 | chr3:191178814-191178864 | PANC-1 | pancreas: | n/a |
45 | chr3:191178814-191178864 | SK-N-MC | brain: | n/a |
46 | chr3:191178814-191178864 | SK-N-SH | brain: | n/a |
47 | chr3:191178814-191178864 | HIPEpiC | eye: | n/a |
48 | chr3:191178814-191178864 | NHDF-neo | bronchial: | n/a |
49 | chr3:191178814-191178864 | Hela-S3 | cervix: | n/a |
50 | chr3:191178814-191178864 | Hepatocyte | liver: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
PYDC2 | CpG island |
rs_ID | r2[population] |
---|---|
rs1125880 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12497197 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1583433 | 0.96[ASN][1000 genomes] |
rs2164234 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2886242 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs5007454 | 0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs56092200 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73189533 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs73189536 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs73189540 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs73189552 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs73189559 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv931943 | chr3:190860224-191321873 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
2 | esv2757910 | chr3:190867011-191279107 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
3 | esv2759209 | chr3:190867011-191279107 | Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
4 | nsv428428 | chr3:190936834-191215596 | Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
5 | nsv534269 | chr3:191037181-191261730 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
6 | esv3432654 | chr3:191161299-191183570 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv878108 | chr3:191175215-191223664 | Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:191175400-191190200 | Weak transcription | K562 | blood |