Variant report
Variant | rs7164665 |
---|---|
Chromosome Location | chr15:78953919-78953920 |
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 | chr15:78953907-78953957 | ProgFib | skin: | n/a |
2 | chr15:78953907-78953957 | HAEpiC | amniotic membrane: | n/a |
3 | chr15:78953907-78953957 | GM12892 | blood: | n/a |
4 | chr15:78953907-78953957 | MCF10A-Er-Src | breast: | n/a |
5 | chr15:78953907-78953957 | T-47D | breast: | n/a |
6 | chr15:78953907-78953957 | HRCEpiC | kidney: | n/a |
7 | chr15:78953907-78953957 | AoSMC | blood vessel: | n/a |
8 | chr15:78953907-78953957 | PANC-1 | pancreas: | n/a |
9 | chr15:78953907-78953957 | HRE | kidney: | n/a |
10 | chr15:78953907-78953957 | BJ | skin: | n/a |
11 | chr15:78953907-78953957 | HIPEpiC | eye: | n/a |
12 | chr15:78953907-78953957 | HCM | heart: | n/a |
13 | chr15:78953907-78953957 | Hela-S3 | cervix: | n/a |
14 | chr15:78953907-78953957 | PFSK-1 | brain: | n/a |
15 | chr15:78953907-78953957 | ovcar-3 | ovarian: | n/a |
16 | chr15:78953907-78953957 | MCF-7 | breast: | n/a |
17 | chr15:78953907-78953957 | HCPEpiC | choroid plexus: | n/a |
18 | chr15:78953907-78953957 | HEK293 | kidney: | embryo |
19 | chr15:78953907-78953957 | NB4 | blood: | n/a |
20 | chr15:78953907-78953957 | HRPEpiC | eye: | n/a |
21 | chr15:78953907-78953957 | HUVEC | blood vessel: | n/a |
22 | chr15:78953907-78953957 | GM19239 | blood: | n/a |
23 | chr15:78953907-78953957 | ECC-1 | luminal epithelium: | n/a |
24 | chr15:78953907-78953957 | NHBE | bronchial: | n/a |
25 | chr15:78953907-78953957 | AG04449 | skin: | fetal |
26 | chr15:78953907-78953957 | HPAEpiC | pulmonary alveolar: | n/a |
27 | chr15:78953907-78953957 | NT2-D1 | testis: | n/a |
28 | chr15:78953907-78953957 | LNCaP | prostate: | n/a |
29 | chr15:78953907-78953957 | HNPCEpiC | eye: | n/a |
30 | chr15:78953907-78953957 | NHDF-neo | bronchial: | n/a |
31 | chr15:78953907-78953957 | GM12878 | blood: | n/a |
32 | chr15:78953907-78953957 | SK-N-MC | brain: | n/a |
33 | chr15:78953907-78953957 | SK-N-SH | brain: | n/a |
34 | chr15:78953907-78953957 | PrEC | prostate: | n/a |
35 | chr15:78953907-78953957 | AG09309 | skin: | n/a |
36 | chr15:78953907-78953957 | Jurkat | blood: | n/a |
37 | chr15:78953907-78953957 | SKMC | muscle: | n/a |
38 | chr15:78953907-78953957 | IMR90 | lung: | fetal |
39 | chr15:78953907-78953957 | GM12891 | blood: | n/a |
40 | chr15:78953907-78953957 | AG10803 | skin: | n/a |
41 | chr15:78953907-78953957 | AG04450 | lung: | fetal |
42 | chr15:78953907-78953957 | RPTEC | kidney: | n/a |
43 | chr15:78953907-78953957 | Hepatocyte | liver: | n/a |
44 | chr15:78953907-78953957 | U87 | brain: | n/a |
45 | chr15:78953907-78953957 | SAEC | small airway: | n/a |
46 | chr15:78953907-78953957 | H1-hESC | embryonic stem cell: | embryo |
47 | chr15:78953907-78953957 | GM06990 | blood: | n/a |
48 | chr15:78953907-78953957 | K562 | blood: | n/a |
49 | chr15:78953907-78953957 | A549 | lung: | n/a |
50 | chr15:78953907-78953957 | HL-60 | blood: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CHRNB4 | CpG island |
RPL18P11 | CpG island |
rs_ID | r2[population] |
---|---|
rs11072774 | 0.89[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12148319 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12594247 | 0.98[EUR][1000 genomes] |
rs12594550 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12595350 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7163204 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv917303 | chr15:78491050-79205255 | Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 122 gene(s) | inside rSNPs | diseases |
2 | nsv1045827 | chr15:78907656-79004642 | Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
3 | nsv457208 | chr15:78908032-79019610 | Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
4 | nsv570201 | chr15:78908032-79019610 | Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
5 | nsv974713 | chr15:78945824-78996783 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv457209 | chr15:78949127-78986805 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
7 | nsv471256 | chr15:78949127-78986805 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
8 | nsv570203 | chr15:78949127-78986805 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr15:78933800-78960200 | Weak transcription | Right Atrium | heart |
2 | chr15:78953800-78955000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |