Variant report
Variant | rs2838612 |
---|---|
Chromosome Location | chr21:46065632-46065633 |
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 | chr21:46065587-46065637 | K562 | blood: | n/a |
2 | chr21:46065587-46065637 | HRE | kidney: | n/a |
3 | chr21:46065587-46065637 | PANC-1 | pancreas: | n/a |
4 | chr21:46065587-46065637 | NH-A | brain: | n/a |
5 | chr21:46065587-46065637 | MCF-7 | breast: | n/a |
6 | chr21:46065587-46065637 | NT2-D1 | testis: | n/a |
7 | chr21:46065587-46065637 | IMR90 | lung: | fetal |
8 | chr21:46065587-46065637 | HUVEC | blood vessel: | n/a |
9 | chr21:46065587-46065637 | GM19239 | blood: | n/a |
10 | chr21:46065587-46065637 | BJ | skin: | n/a |
11 | chr21:46065587-46065637 | HRCEpiC | kidney: | n/a |
12 | chr21:46065587-46065637 | HL-60 | blood: | n/a |
13 | chr21:46065587-46065637 | HCT-116 | colon: | n/a |
14 | chr21:46065587-46065637 | AG10803 | skin: | n/a |
15 | chr21:46065587-46065637 | RPTEC | kidney: | n/a |
16 | chr21:46065587-46065637 | ProgFib | skin: | n/a |
17 | chr21:46065587-46065637 | H1-hESC | embryonic stem cell: | embryo |
18 | chr21:46065587-46065637 | HAEpiC | amniotic membrane: | n/a |
19 | chr21:46065587-46065637 | HNPCEpiC | eye: | n/a |
20 | chr21:46065587-46065637 | HCPEpiC | choroid plexus: | n/a |
21 | chr21:46065587-46065637 | AG09319 | gingival: | n/a |
22 | chr21:46065587-46065637 | AoSMC | blood vessel: | n/a |
23 | chr21:46065587-46065637 | CMK | blood: | n/a |
24 | chr21:46065587-46065637 | SAEC | small airway: | n/a |
25 | chr21:46065587-46065637 | PFSK-1 | brain: | n/a |
26 | chr21:46065587-46065637 | Hepatocyte | liver: | n/a |
27 | chr21:46065587-46065637 | SK-N-MC | brain: | n/a |
28 | chr21:46065587-46065637 | T-47D | breast: | n/a |
29 | chr21:46065587-46065637 | NB4 | blood: | n/a |
30 | chr21:46065587-46065637 | Caco-2 | colon: | n/a |
31 | chr21:46065587-46065637 | AG09309 | skin: | n/a |
32 | chr21:46065587-46065637 | HMEC | breast: | n/a |
33 | chr21:46065587-46065637 | Hela-S3 | cervix: | n/a |
34 | chr21:46065587-46065637 | SK-N-SH_RA | brain: | n/a |
35 | chr21:46065587-46065637 | AG04449 | skin: | fetal |
36 | chr21:46065587-46065637 | BE2_C | brain: | n/a |
37 | chr21:46065587-46065637 | GM12892 | blood: | n/a |
38 | chr21:46065587-46065637 | LNCaP | prostate: | n/a |
39 | chr21:46065587-46065637 | NHDF-neo | bronchial: | n/a |
40 | chr21:46065587-46065637 | PrEC | prostate: | n/a |
41 | chr21:46065587-46065637 | SKMC | muscle: | n/a |
42 | chr21:46065587-46065637 | HRPEpiC | eye: | n/a |
43 | chr21:46065587-46065637 | ECC-1 | luminal epithelium: | n/a |
44 | chr21:46065587-46065637 | HCF | heart: | n/a |
45 | chr21:46065587-46065637 | GM06990 | blood: | n/a |
46 | chr21:46065587-46065637 | GM12891 | blood: | n/a |
47 | chr21:46065587-46065637 | HEK293 | kidney: | embryo |
48 | chr21:46065587-46065637 | GM12878 | blood: | n/a |
49 | chr21:46065587-46065637 | A549 | lung: | n/a |
50 | chr21:46065587-46065637 | HepG2 | liver: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KRTAP10-11 | CpG island |
rs_ID | r2[population] |
---|---|
rs10854463 | 0.86[JPT][hapmap] |
rs11088954 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12106369 | 0.81[JPT][hapmap] |
rs12482870 | 0.81[JPT][hapmap] |
rs12626215 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12626853 | 0.82[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap] |
rs13046341 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13048478 | 0.89[JPT][hapmap] |
rs13051885 | 0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap] |
rs1883039 | 0.82[JPT][hapmap] |
rs1883041 | 0.82[JPT][hapmap] |
rs2070574 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2073437 | 0.82[JPT][hapmap] |
rs2225433 | 0.86[JPT][hapmap] |
rs2256361 | 0.86[JPT][hapmap] |
rs2256490 | 0.86[JPT][hapmap] |
rs2256496 | 0.86[JPT][hapmap] |
rs2329845 | 0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap] |
rs2838597 | 0.88[EUR][1000 genomes] |
rs2838602 | 0.91[CHB][hapmap];0.81[JPT][hapmap] |
rs2838610 | 0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes] |
rs2838611 | 0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes] |
rs2838614 | 0.82[JPT][hapmap] |
rs2838617 | 0.82[JPT][hapmap] |
rs2838618 | 0.82[JPT][hapmap] |
rs2838619 | 0.86[JPT][hapmap] |
rs2838622 | 0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[MEX][hapmap] |
rs2838623 | 0.82[JPT][hapmap] |
rs2838624 | 0.82[JPT][hapmap] |
rs2838625 | 0.82[JPT][hapmap] |
rs2838627 | 0.85[JPT][hapmap] |
rs28542851 | 0.86[JPT][hapmap] |
rs4050979 | 0.86[JPT][hapmap] |
rs4818728 | 0.82[JPT][hapmap] |
rs4818947 | 0.85[CHB][hapmap];0.90[JPT][hapmap] |
rs4818950 | 0.86[JPT][hapmap] |
rs4818953 | 0.82[JPT][hapmap] |
rs7275203 | 0.82[JPT][hapmap] |
rs7275666 | 0.82[JPT][hapmap] |
rs7276421 | 0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes] |
rs7276859 | 0.86[JPT][hapmap] |
rs7280471 | 0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes] |
rs7509675 | 0.86[JPT][hapmap] |
rs762431 | 0.87[CHB][hapmap];0.82[JPT][hapmap] |
rs8126811 | 0.86[JPT][hapmap] |
rs8129802 | 0.91[JPT][hapmap] |
rs9284507 | 0.91[JPT][hapmap] |
rs9306112 | 0.82[JPT][hapmap] |
rs9983892 | 0.83[CHD][hapmap];0.82[JPT][hapmap] |
rs9984726 | 0.81[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1065798 | chr21:45941000-46097463 | Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
2 | nsv869108 | chr21:45941000-46097463 | Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
3 | nsv544476 | chr21:45941000-46097463 | Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
4 | nsv913950 | chr21:45985068-46097463 | Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
5 | nsv916258 | chr21:45995986-46624705 | Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 102 gene(s) | inside rSNPs | diseases |