Variant report
Variant | rs72912421 |
---|---|
Chromosome Location | chr6:87607169-87607170 |
allele | A/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 | chr6:87607161-87607211 | HCF | heart: | n/a |
2 | chr6:87607161-87607211 | SAEC | small airway: | n/a |
3 | chr6:87607161-87607211 | GM06990 | blood: | n/a |
4 | chr6:87607161-87607211 | U87 | brain: | n/a |
5 | chr6:87607161-87607211 | HEEpiC | esophagus: | n/a |
6 | chr6:87607161-87607211 | HNPCEpiC | eye: | n/a |
7 | chr6:87607161-87607211 | HCT-116 | colon: | n/a |
8 | chr6:87607161-87607211 | HL-60 | blood: | n/a |
9 | chr6:87607161-87607211 | AG04450 | lung: | fetal |
10 | chr6:87607161-87607211 | MCF-7 | breast: | n/a |
11 | chr6:87607161-87607211 | AG09319 | gingival: | n/a |
12 | chr6:87607161-87607211 | NB4 | blood: | n/a |
13 | chr6:87607161-87607211 | RPTEC | kidney: | n/a |
14 | chr6:87607161-87607211 | NHDF-neo | bronchial: | n/a |
15 | chr6:87607161-87607211 | AoSMC | blood vessel: | n/a |
16 | chr6:87607161-87607211 | Hepatocyte | liver: | n/a |
17 | chr6:87607161-87607211 | HCPEpiC | choroid plexus: | n/a |
18 | chr6:87607161-87607211 | A549 | lung: | n/a |
19 | chr6:87607161-87607211 | ovcar-3 | ovarian: | n/a |
20 | chr6:87607161-87607211 | MCF10A-Er-Src | breast: | n/a |
21 | chr6:87607161-87607211 | NH-A | brain: | n/a |
22 | chr6:87607161-87607211 | HepG2 | liver: | n/a |
23 | chr6:87607161-87607211 | ProgFib | skin: | n/a |
24 | chr6:87607161-87607211 | AG10803 | skin: | n/a |
25 | chr6:87607161-87607211 | PFSK-1 | brain: | n/a |
26 | chr6:87607161-87607211 | SK-N-SH | brain: | n/a |
27 | chr6:87607161-87607211 | NHBE | bronchial: | n/a |
28 | chr6:87607161-87607211 | HCM | heart: | n/a |
29 | chr6:87607161-87607211 | ECC-1 | luminal epithelium: | n/a |
30 | chr6:87607161-87607211 | AG09309 | skin: | n/a |
31 | chr6:87607161-87607211 | GM12878 | blood: | n/a |
32 | chr6:87607161-87607211 | HUVEC | blood vessel: | n/a |
33 | chr6:87607161-87607211 | NT2-D1 | testis: | n/a |
34 | chr6:87607161-87607211 | IMR90 | lung: | fetal |
35 | chr6:87607161-87607211 | Hela-S3 | cervix: | n/a |
36 | chr6:87607161-87607211 | GM12891 | blood: | n/a |
37 | chr6:87607161-87607211 | H1-hESC | embryonic stem cell: | embryo |
38 | chr6:87607161-87607211 | LNCaP | prostate: | n/a |
39 | chr6:87607161-87607211 | BE2_C | brain: | n/a |
40 | chr6:87607161-87607211 | GM12892 | blood: | n/a |
41 | chr6:87607161-87607211 | HPAEpiC | pulmonary alveolar: | n/a |
42 | chr6:87607161-87607211 | PrEC | prostate: | n/a |
43 | chr6:87607161-87607211 | SK-N-MC | brain: | n/a |
44 | chr6:87607161-87607211 | SK-N-SH_RA | brain: | n/a |
45 | chr6:87607161-87607211 | AG04449 | skin: | fetal |
46 | chr6:87607161-87607211 | T-47D | breast: | n/a |
47 | chr6:87607161-87607211 | HAEpiC | amniotic membrane: | n/a |
48 | chr6:87607161-87607211 | SKMC | muscle: | n/a |
49 | chr6:87607161-87607211 | HRE | kidney: | n/a |
50 | chr6:87607161-87607211 | Caco-2 | colon: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000220240 | CpG island |
rs_ID | r2[population] |
---|---|
rs11964560 | 0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12525091 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12525105 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs12529712 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs16877989 | 0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1950791 | 0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2145049 | 0.81[EUR][1000 genomes] |
rs2875501 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs3763229 | 0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs3763230 | 0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs55973818 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs72910575 | 0.81[EUR][1000 genomes] |
rs72910588 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs72910598 | 0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs72910602 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1026234 | chr6:86745200-87640200 | Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
2 | nsv532046 | chr6:86754494-87615799 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
3 | nsv1024339 | chr6:86778852-87622650 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | nsv1018878 | chr6:86778852-87691755 | Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
5 | nsv1031639 | chr6:86815397-87721507 | Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
6 | nsv1025307 | chr6:87354495-87640200 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
7 | nsv1024751 | chr6:87433199-87908721 | Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 27 gene(s) | inside rSNPs | diseases |
8 | esv1811101 | chr6:87456503-87645214 | Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
9 | esv2758066 | chr6:87456503-87645214 | Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
10 | esv2759452 | chr6:87456503-87645214 | Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
11 | nsv970341 | chr6:87567573-87616057 | Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
12 | nsv981163 | chr6:87606791-87613920 | Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers | TF binding regionCpG island | 2 gene(s) | inside rSNPs | diseases |
No data |