Variant report
Variant | rs138830523 |
---|---|
Chromosome Location | chr2:101086803-101086804 |
allele | A/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 | chr2:101086756-101086806 | AG04449 | skin: | fetal |
2 | chr2:101086756-101086806 | U87 | brain: | n/a |
3 | chr2:101086756-101086806 | HL-60 | blood: | n/a |
4 | chr2:101086756-101086806 | MCF-7 | breast: | n/a |
5 | chr2:101086756-101086806 | H1-hESC | embryonic stem cell: | embryo |
6 | chr2:101086756-101086806 | ovcar-3 | ovarian: | n/a |
7 | chr2:101086756-101086806 | AoSMC | blood vessel: | n/a |
8 | chr2:101086756-101086806 | HRCEpiC | kidney: | n/a |
9 | chr2:101086756-101086806 | HCM | heart: | n/a |
10 | chr2:101086756-101086806 | HUVEC | blood vessel: | n/a |
11 | chr2:101086756-101086806 | AG09309 | skin: | n/a |
12 | chr2:101086756-101086806 | PANC-1 | pancreas: | n/a |
13 | chr2:101086756-101086806 | SK-N-SH_RA | brain: | n/a |
14 | chr2:101086756-101086806 | HCPEpiC | choroid plexus: | n/a |
15 | chr2:101086756-101086806 | SK-N-MC | brain: | n/a |
16 | chr2:101086756-101086806 | HIPEpiC | eye: | n/a |
17 | chr2:101086756-101086806 | HCF | heart: | n/a |
18 | chr2:101086756-101086806 | Jurkat | blood: | n/a |
19 | chr2:101086756-101086806 | HAEpiC | amniotic membrane: | n/a |
20 | chr2:101086756-101086806 | HNPCEpiC | eye: | n/a |
21 | chr2:101086756-101086806 | A549 | lung: | n/a |
22 | chr2:101086756-101086806 | NHBE | bronchial: | n/a |
23 | chr2:101086756-101086806 | HEK293 | kidney: | embryo |
24 | chr2:101086756-101086806 | PFSK-1 | brain: | n/a |
25 | chr2:101086756-101086806 | BE2_C | brain: | n/a |
26 | chr2:101086756-101086806 | ProgFib | skin: | n/a |
27 | chr2:101086756-101086806 | Hela-S3 | cervix: | n/a |
28 | chr2:101086756-101086806 | NHDF-neo | bronchial: | n/a |
29 | chr2:101086756-101086806 | AG10803 | skin: | n/a |
30 | chr2:101086756-101086806 | HCT-116 | colon: | n/a |
31 | chr2:101086756-101086806 | SAEC | small airway: | n/a |
32 | chr2:101086756-101086806 | BJ | skin: | n/a |
33 | chr2:101086756-101086806 | K562 | blood: | n/a |
34 | chr2:101086756-101086806 | HRPEpiC | eye: | n/a |
35 | chr2:101086756-101086806 | HPAEpiC | pulmonary alveolar: | n/a |
36 | chr2:101086756-101086806 | GM12878 | blood: | n/a |
37 | chr2:101086756-101086806 | T-47D | breast: | n/a |
38 | chr2:101086756-101086806 | MCF10A-Er-Src | breast: | n/a |
39 | chr2:101086756-101086806 | LNCaP | prostate: | n/a |
40 | chr2:101086756-101086806 | ECC-1 | luminal epithelium: | n/a |
41 | chr2:101086756-101086806 | GM06990 | blood: | n/a |
42 | chr2:101086756-101086806 | HMEC | breast: | n/a |
43 | chr2:101086756-101086806 | HepG2 | liver: | n/a |
44 | chr2:101086756-101086806 | HEEpiC | esophagus: | n/a |
45 | chr2:101086756-101086806 | CMK | blood: | n/a |
46 | chr2:101086756-101086806 | IMR90 | lung: | fetal |
47 | chr2:101086756-101086806 | Caco-2 | colon: | n/a |
48 | chr2:101086756-101086806 | SK-N-SH | brain: | n/a |
49 | chr2:101086756-101086806 | GM12892 | blood: | n/a |
50 | chr2:101086756-101086806 | AG09319 | gingival: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
NMS | CpG island |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1007777 | chr2:100816913-101308914 | Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
2 | nsv535844 | chr2:100816913-101308914 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
3 | nsv582531 | chr2:100908508-101207639 | Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
4 | nsv916792 | chr2:101021066-101525200 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
5 | nsv582532 | chr2:101029002-101531943 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
6 | nsv1011990 | chr2:101039956-101105648 | Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
7 | nsv834312 | chr2:101044438-101238166 | Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
8 | nsv582533 | chr2:101086151-101103384 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:101086600-101087000 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
2 | chr2:101086800-101087000 | Enhancers | Spleen | Spleen |