Variant report
Variant | rs57977588 |
---|---|
Chromosome Location | chr5:101634545-101634546 |
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 | chr5:101634495-101634545 | GM19239 | blood: | n/a |
2 | chr5:101634495-101634545 | NB4 | blood: | n/a |
3 | chr5:101634495-101634545 | AG10803 | skin: | n/a |
4 | chr5:101634495-101634545 | HCF | heart: | n/a |
5 | chr5:101634495-101634545 | RPTEC | kidney: | n/a |
6 | chr5:101634495-101634545 | HCPEpiC | choroid plexus: | n/a |
7 | chr5:101634495-101634545 | SK-N-MC | brain: | n/a |
8 | chr5:101634495-101634545 | NH-A | brain: | n/a |
9 | chr5:101634495-101634545 | NHBE | bronchial: | n/a |
10 | chr5:101634495-101634545 | HAEpiC | amniotic membrane: | n/a |
11 | chr5:101634495-101634545 | U87 | brain: | n/a |
12 | chr5:101634495-101634545 | Jurkat | blood: | n/a |
13 | chr5:101634495-101634545 | HPAEpiC | pulmonary alveolar: | n/a |
14 | chr5:101634495-101634545 | ovcar-3 | ovarian: | n/a |
15 | chr5:101634495-101634545 | HRE | kidney: | n/a |
16 | chr5:101634495-101634545 | SAEC | small airway: | n/a |
17 | chr5:101634495-101634545 | MCF10A-Er-Src | breast: | n/a |
18 | chr5:101634495-101634545 | NHDF-neo | bronchial: | n/a |
19 | chr5:101634495-101634545 | H1-hESC | embryonic stem cell: | embryo |
20 | chr5:101634495-101634545 | HEK293 | kidney: | embryo |
21 | chr5:101634495-101634545 | HNPCEpiC | eye: | n/a |
22 | chr5:101634495-101634545 | BJ | skin: | n/a |
23 | chr5:101634495-101634545 | HCM | heart: | n/a |
24 | chr5:101634495-101634545 | BE2_C | brain: | n/a |
25 | chr5:101634495-101634545 | Caco-2 | colon: | n/a |
26 | chr5:101634495-101634545 | SKMC | muscle: | n/a |
27 | chr5:101634495-101634545 | HCT-116 | colon: | n/a |
28 | chr5:101634495-101634545 | IMR90 | lung: | fetal |
29 | chr5:101634495-101634545 | GM12891 | blood: | n/a |
30 | chr5:101634495-101634545 | PFSK-1 | brain: | n/a |
31 | chr5:101634495-101634545 | K562 | blood: | n/a |
32 | chr5:101634495-101634545 | AG09319 | gingival: | n/a |
33 | chr5:101634495-101634545 | GM12878 | blood: | n/a |
34 | chr5:101634495-101634545 | PrEC | prostate: | n/a |
35 | chr5:101634495-101634545 | GM06990 | blood: | n/a |
36 | chr5:101634495-101634545 | HIPEpiC | eye: | n/a |
37 | chr5:101634495-101634545 | AG09309 | skin: | n/a |
38 | chr5:101634495-101634545 | AG04450 | lung: | fetal |
39 | chr5:101634495-101634545 | A549 | lung: | n/a |
40 | chr5:101634495-101634545 | HRPEpiC | eye: | n/a |
41 | chr5:101634495-101634545 | AoSMC | blood vessel: | n/a |
42 | chr5:101634495-101634545 | MCF-7 | breast: | n/a |
43 | chr5:101634495-101634545 | HRCEpiC | kidney: | n/a |
44 | chr5:101634495-101634545 | GM12892 | blood: | n/a |
45 | chr5:101634495-101634545 | ProgFib | skin: | n/a |
46 | chr5:101634495-101634545 | Hepatocyte | liver: | n/a |
47 | chr5:101634495-101634545 | Hela-S3 | cervix: | n/a |
48 | chr5:101634495-101634545 | HMEC | breast: | n/a |
49 | chr5:101634495-101634545 | HEEpiC | esophagus: | n/a |
50 | chr5:101634495-101634545 | NT2-D1 | testis: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
RN7SKP68 | CpG island |
SLCO4C1 | CpG island |
rs_ID | r2[population] |
---|---|
rs10038081 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10038372 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10040933 | 1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10045752 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10052669 | 0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10055641 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10057361 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10059790 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10063002 | 0.82[EUR][1000 genomes] |
rs10063351 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10066445 | 0.90[ASN][1000 genomes] |
rs10067051 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10070402 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10072122 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10072167 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10074392 | 0.92[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs10077220 | 0.82[EUR][1000 genomes] |
rs10078945 | 0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10214232 | 0.82[EUR][1000 genomes] |
rs10479190 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11746537 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13355136 | 0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs13356480 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13357340 | 0.82[EUR][1000 genomes] |
rs13357585 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13357610 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13358420 | 0.82[EUR][1000 genomes] |
rs13358421 | 0.82[EUR][1000 genomes] |
rs13358882 | 0.81[EUR][1000 genomes] |
rs13359098 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13359604 | 0.82[EUR][1000 genomes] |
rs13360644 | 0.82[EUR][1000 genomes] |
rs1376901 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1584714 | 0.81[EUR][1000 genomes] |
rs1584715 | 0.81[EUR][1000 genomes] |
rs17271947 | 0.81[ASN][1000 genomes] |
rs1823691 | 0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs1823692 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2123131 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2123132 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2218926 | 0.82[EUR][1000 genomes] |
rs28421510 | 0.82[EUR][1000 genomes] |
rs28469696 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs28481357 | 0.81[ASN][1000 genomes] |
rs28602449 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs28625937 | 0.82[EUR][1000 genomes] |
rs28864102 | 0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2895807 | 0.82[EUR][1000 genomes] |
rs5012584 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59648644 | 0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs59723886 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs59934563 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs60647834 | 0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs61335461 | 0.81[ASN][1000 genomes] |
rs62372160 | 0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs62372161 | 0.81[ASN][1000 genomes] |
rs62372163 | 0.81[ASN][1000 genomes] |
rs62372166 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62372213 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62372214 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62372215 | 0.82[EUR][1000 genomes] |
rs62372216 | 0.82[EUR][1000 genomes] |
rs62372217 | 0.82[EUR][1000 genomes] |
rs62372218 | 0.82[EUR][1000 genomes] |
rs62372219 | 0.82[EUR][1000 genomes] |
rs62372220 | 0.82[EUR][1000 genomes] |
rs62372221 | 0.82[EUR][1000 genomes] |
rs62372222 | 0.82[EUR][1000 genomes] |
rs62372234 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs62372301 | 0.90[ASN][1000 genomes] |
rs6866041 | 0.81[ASN][1000 genomes] |
rs6892179 | 0.81[ASN][1000 genomes] |
rs72777945 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs72777964 | 0.81[ASN][1000 genomes] |
rs7445156 | 0.82[EUR][1000 genomes] |
rs9327814 | 0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs9327815 | 0.81[ASN][1000 genomes] |
rs9327821 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9327823 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9327824 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9327825 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1022551 | chr5:101366177-101649643 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv882505 | chr5:101397849-101652251 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
3 | nsv1028787 | chr5:101432086-101718569 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
4 | nsv817537 | chr5:101489151-101992104 | Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
5 | nsv1016176 | chr5:101534391-102333606 | Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
6 | nsv537831 | chr5:101534391-102333606 | Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
7 | nsv522882 | chr5:101596633-101782930 | Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
8 | nsv1029894 | chr5:101620079-102516827 | Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 38 gene(s) | inside rSNPs | diseases |
9 | nsv462324 | chr5:101633610-101729504 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
10 | nsv599189 | chr5:101633610-101729504 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
11 | nsv1015892 | chr5:101633610-101730439 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:101632600-101649200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr5:101633200-101635000 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr5:101634200-101635000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
4 | chr5:101634400-101634800 | Flanking Active TSS | Liver | Liver |
5 | chr5:101634400-101635000 | Enhancers | HepG2 | liver |