Variant report
Variant | rs72642861 |
---|---|
Chromosome Location | chr8:39695859-39695860 |
allele | A/C/G |
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 | chr8:39695848-39695898 | HNPCEpiC | eye: | n/a |
2 | chr8:39695848-39695898 | HRCEpiC | kidney: | n/a |
3 | chr8:39695848-39695898 | PrEC | prostate: | n/a |
4 | chr8:39695848-39695898 | HCPEpiC | choroid plexus: | n/a |
5 | chr8:39695848-39695898 | GM12892 | blood: | n/a |
6 | chr8:39695848-39695898 | NHDF-neo | bronchial: | n/a |
7 | chr8:39695848-39695898 | Caco-2 | colon: | n/a |
8 | chr8:39695848-39695898 | SK-N-MC | brain: | n/a |
9 | chr8:39695848-39695898 | SK-N-SH_RA | brain: | n/a |
10 | chr8:39695848-39695898 | IMR90 | lung: | fetal |
11 | chr8:39695848-39695898 | MCF-7 | breast: | n/a |
12 | chr8:39695848-39695898 | SKMC | muscle: | n/a |
13 | chr8:39695848-39695898 | AG04449 | skin: | fetal |
14 | chr8:39695848-39695898 | HRPEpiC | eye: | n/a |
15 | chr8:39695848-39695898 | HRE | kidney: | n/a |
16 | chr8:39695848-39695898 | Hepatocyte | liver: | n/a |
17 | chr8:39695848-39695898 | RPTEC | kidney: | n/a |
18 | chr8:39695848-39695898 | U87 | brain: | n/a |
19 | chr8:39695848-39695898 | NT2-D1 | testis: | n/a |
20 | chr8:39695848-39695898 | GM12891 | blood: | n/a |
21 | chr8:39695848-39695898 | HAEpiC | amniotic membrane: | n/a |
22 | chr8:39695848-39695898 | HMEC | breast: | n/a |
23 | chr8:39695848-39695898 | HCF | heart: | n/a |
24 | chr8:39695848-39695898 | SK-N-SH | brain: | n/a |
25 | chr8:39695848-39695898 | AG04450 | lung: | fetal |
26 | chr8:39695848-39695898 | GM06990 | blood: | n/a |
27 | chr8:39695848-39695898 | GM12878 | blood: | n/a |
28 | chr8:39695848-39695898 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr8:39695848-39695898 | Jurkat | blood: | n/a |
30 | chr8:39695848-39695898 | HUVEC | blood vessel: | n/a |
31 | chr8:39695848-39695898 | NB4 | blood: | n/a |
32 | chr8:39695848-39695898 | ECC-1 | luminal epithelium: | n/a |
33 | chr8:39695848-39695898 | HL-60 | blood: | n/a |
34 | chr8:39695848-39695898 | ovcar-3 | ovarian: | n/a |
35 | chr8:39695848-39695898 | BJ | skin: | n/a |
36 | chr8:39695848-39695898 | HEK293 | kidney: | embryo |
37 | chr8:39695848-39695898 | PFSK-1 | brain: | n/a |
38 | chr8:39695848-39695898 | GM19239 | blood: | n/a |
39 | chr8:39695848-39695898 | CMK | blood: | n/a |
40 | chr8:39695848-39695898 | H1-hESC | embryonic stem cell: | embryo |
41 | chr8:39695848-39695898 | SAEC | small airway: | n/a |
42 | chr8:39695848-39695898 | HEEpiC | esophagus: | n/a |
43 | chr8:39695848-39695898 | AG10803 | skin: | n/a |
44 | chr8:39695848-39695898 | AG09319 | gingival: | n/a |
45 | chr8:39695848-39695898 | NHBE | bronchial: | n/a |
46 | chr8:39695848-39695898 | T-47D | breast: | n/a |
47 | chr8:39695848-39695898 | ProgFib | skin: | n/a |
48 | chr8:39695848-39695898 | BE2_C | brain: | n/a |
49 | chr8:39695848-39695898 | AoSMC | blood vessel: | n/a |
50 | chr8:39695848-39695898 | AG09309 | skin: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ADAM2 | CpG island |
rs_ID | r2[population] |
---|---|
rs10096637 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62511247 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs62511257 | 0.81[AMR][1000 genomes] |
rs72642874 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72642876 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72642877 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1015907 | chr8:38967169-39718559 | Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
2 | nsv539550 | chr8:38967169-39718559 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
3 | nsv539555 | chr8:39683857-40673606 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:39695600-39696000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |