Variant report
Variant | rs4900347 |
---|---|
Chromosome Location | chr14:97262907-97262908 |
allele | G/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 | chr14:97262871-97262921 | HCPEpiC | choroid plexus: | n/a |
2 | chr14:97262871-97262921 | U87 | brain: | n/a |
3 | chr14:97262871-97262921 | HL-60 | blood: | n/a |
4 | chr14:97262871-97262921 | SK-N-SH | brain: | n/a |
5 | chr14:97262871-97262921 | CMK | blood: | n/a |
6 | chr14:97262871-97262921 | BE2_C | brain: | n/a |
7 | chr14:97262871-97262921 | SK-N-SH_RA | brain: | n/a |
8 | chr14:97262871-97262921 | HMEC | breast: | n/a |
9 | chr14:97262871-97262921 | BJ | skin: | n/a |
10 | chr14:97262871-97262921 | IMR90 | lung: | fetal |
11 | chr14:97262871-97262921 | NHDF-neo | bronchial: | n/a |
12 | chr14:97262871-97262921 | AG09319 | gingival: | n/a |
13 | chr14:97262871-97262921 | GM12891 | blood: | n/a |
14 | chr14:97262871-97262921 | ECC-1 | luminal epithelium: | n/a |
15 | chr14:97262871-97262921 | MCF10A-Er-Src | breast: | n/a |
16 | chr14:97262871-97262921 | HCF | heart: | n/a |
17 | chr14:97262871-97262921 | Caco-2 | colon: | n/a |
18 | chr14:97262871-97262921 | HRE | kidney: | n/a |
19 | chr14:97262871-97262921 | AG10803 | skin: | n/a |
20 | chr14:97262871-97262921 | Jurkat | blood: | n/a |
21 | chr14:97262871-97262921 | SKMC | muscle: | n/a |
22 | chr14:97262871-97262921 | GM06990 | blood: | n/a |
23 | chr14:97262871-97262921 | K562 | blood: | n/a |
24 | chr14:97262871-97262921 | GM19239 | blood: | n/a |
25 | chr14:97262871-97262921 | AoSMC | blood vessel: | n/a |
26 | chr14:97262871-97262921 | A549 | lung: | n/a |
27 | chr14:97262871-97262921 | HRCEpiC | kidney: | n/a |
28 | chr14:97262871-97262921 | HPAEpiC | pulmonary alveolar: | n/a |
29 | chr14:97262871-97262921 | HRPEpiC | eye: | n/a |
30 | chr14:97262871-97262921 | GM12892 | blood: | n/a |
31 | chr14:97262871-97262921 | NHBE | bronchial: | n/a |
32 | chr14:97262871-97262921 | ProgFib | skin: | n/a |
33 | chr14:97262871-97262921 | Hepatocyte | liver: | n/a |
34 | chr14:97262871-97262921 | PrEC | prostate: | n/a |
35 | chr14:97262871-97262921 | HNPCEpiC | eye: | n/a |
36 | chr14:97262871-97262921 | HUVEC | blood vessel: | n/a |
37 | chr14:97262871-97262921 | MCF-7 | breast: | n/a |
38 | chr14:97262871-97262921 | SAEC | small airway: | n/a |
39 | chr14:97262871-97262921 | NT2-D1 | testis: | n/a |
40 | chr14:97262871-97262921 | PFSK-1 | brain: | n/a |
41 | chr14:97262871-97262921 | AG04449 | skin: | fetal |
42 | chr14:97262871-97262921 | SK-N-MC | brain: | n/a |
43 | chr14:97262871-97262921 | PANC-1 | pancreas: | n/a |
44 | chr14:97262871-97262921 | HIPEpiC | eye: | n/a |
45 | chr14:97262871-97262921 | HCT-116 | colon: | n/a |
46 | chr14:97262871-97262921 | GM12878 | blood: | n/a |
47 | chr14:97262871-97262921 | NB4 | blood: | n/a |
48 | chr14:97262871-97262921 | AG09309 | skin: | n/a |
49 | chr14:97262871-97262921 | T-47D | breast: | n/a |
50 | chr14:97262871-97262921 | NH-A | brain: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
VRK1 | CpG island |
rs_ID | r2[population] |
---|---|
rs10131201 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10131630 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10145383 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10146571 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10149107 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11160369 | 0.86[ASN][1000 genomes] |
rs11160371 | 0.86[ASN][1000 genomes] |
rs11628733 | 0.86[ASN][1000 genomes] |
rs12433112 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12434466 | 0.86[ASN][1000 genomes] |
rs12435963 | 0.85[ASN][1000 genomes] |
rs12590723 | 0.85[ASN][1000 genomes] |
rs12878184 | 0.96[ASN][1000 genomes] |
rs12882853 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12894621 | 0.88[ASN][1000 genomes] |
rs12897731 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs1951311 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1951312 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs1957137 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2145636 | 0.85[ASN][1000 genomes] |
rs2180896 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2224442 | 0.86[ASN][1000 genomes] |
rs2230532 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs3825576 | 0.86[ASN][1000 genomes] |
rs4270096 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4900349 | 0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4900350 | 0.80[ASN][1000 genomes] |
rs4900351 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4905546 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4905547 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4905552 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4905553 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4905555 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4905557 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs4905558 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs4905560 | 0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs58514314 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs61981027 | 0.95[ASN][1000 genomes] |
rs67804110 | 0.92[ASN][1000 genomes] |
rs67957817 | 0.81[ASN][1000 genomes] |
rs7141028 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs71419296 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7156355 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs722869 | 0.86[ASN][1000 genomes] |
rs723810 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs736929 | 0.92[ASN][1000 genomes] |
rs8013081 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs8016614 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs9285600 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs9323951 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs9323954 | 0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9323955 | 0.80[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1041078 | chr14:97001679-97279220 | Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
2 | nsv1050075 | chr14:97004951-97279220 | Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
3 | nsv1044202 | chr14:97155291-97683983 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | nsv542179 | chr14:97155291-97683983 | Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
5 | nsv510650 | chr14:97238489-97325221 | Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:97259200-97263600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
2 | chr14:97261800-97263200 | Enhancers | HepG2 | liver |
3 | chr14:97262000-97263200 | Weak transcription | K562 | blood |
4 | chr14:97262200-97263400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
5 | chr14:97262400-97263200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
6 | chr14:97262400-97263400 | Weak transcription | Primary monocytes fromperipheralblood | blood |
7 | chr14:97262800-97263200 | Enhancers | Dnd41 | blood |
8 | chr14:97262800-97263600 | Weak transcription | Primary B cells from cord blood | blood |