Variant report
Variant | rs11960863 |
---|---|
Chromosome Location | chr5:177614401-177614402 |
allele | C/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:10)
- CpG islands (count:61)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:10 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | POLR2A | chr5:177614399-177614487 | ProgFib | skin: | n/a | n/a |
2 | POLR2A | chr5:177614354-177614462 | H1-hESC | embryonic stem cell: | n/a | n/a |
3 | HEY1 | chr5:177614269-177614488 | HepG2 | liver: | n/a | chr5:177614356-177614371 |
4 | POLR2A | chr5:177614394-177614440 | MCF-7 | breast: | n/a | n/a |
5 | POLR2A | chr5:177614259-177614463 | MCF-7 | breast: | n/a | n/a |
6 | ZNF384 | chr5:177614002-177614537 | K562 | blood: | n/a | n/a |
7 | POLR2A | chr5:177614340-177614449 | GM12878 | blood: | n/a | n/a |
8 | POLR2A | chr5:177614347-177614466 | A549 | lung: | n/a | n/a |
9 | POLR2A | chr5:177614371-177614432 | A549 | lung: | n/a | n/a |
10 | MYC | chr5:177614392-177614456 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:177614382-177614432 | AG04449 | skin: | fetal |
2 | chr5:177614382-177614432 | Jurkat | blood: | n/a |
3 | chr5:177614382-177614432 | H1-hESC | embryonic stem cell: | embryo |
4 | chr5:177614382-177614432 | Hela-S3 | cervix: | n/a |
5 | chr5:177614382-177614432 | SK-N-SH | brain: | n/a |
6 | chr5:177614382-177614432 | ovcar-3 | ovarian: | n/a |
7 | chr5:177614382-177614432 | AoSMC | blood vessel: | n/a |
8 | chr5:177614382-177614432 | HEK293 | kidney: | embryo |
9 | chr5:177614382-177614432 | GM12892 | blood: | n/a |
10 | chr5:177614382-177614432 | Hepatocyte | liver: | n/a |
11 | chr5:177614382-177614432 | HPAEpiC | pulmonary alveolar: | n/a |
12 | chr5:177614382-177614432 | HEEpiC | esophagus: | n/a |
13 | chr5:177614382-177614432 | HRPEpiC | eye: | n/a |
14 | chr5:177614382-177614432 | ProgFib | skin: | n/a |
15 | chr5:177614382-177614432 | AG09319 | gingival: | n/a |
16 | chr5:177614382-177614432 | A549 | lung: | n/a |
17 | chr5:177614382-177614432 | RPTEC | kidney: | n/a |
18 | chr5:177614382-177614432 | ECC-1 | luminal epithelium: | n/a |
19 | chr5:177614382-177614432 | HNPCEpiC | eye: | n/a |
20 | chr5:177614382-177614432 | MCF-7 | breast: | n/a |
21 | chr5:177614382-177614432 | HAEpiC | amniotic membrane: | n/a |
22 | chr5:177614382-177614432 | GM06990 | blood: | n/a |
23 | chr5:177614382-177614432 | U87 | brain: | n/a |
24 | chr5:177614382-177614432 | PANC-1 | pancreas: | n/a |
25 | chr5:177614382-177614432 | HCM | heart: | n/a |
26 | chr5:177614382-177614432 | CMK | blood: | n/a |
27 | chr5:177614382-177614432 | SAEC | small airway: | n/a |
28 | chr5:177614382-177614432 | NB4 | blood: | n/a |
29 | chr5:177614382-177614432 | AG09309 | skin: | n/a |
30 | chr5:177614382-177614432 | HCF | heart: | n/a |
31 | chr5:177614382-177614432 | NT2-D1 | testis: | n/a |
32 | chr5:177614382-177614432 | GM19239 | blood: | n/a |
33 | chr5:177614382-177614432 | BE2_C | brain: | n/a |
34 | chr5:177614382-177614432 | BJ | skin: | n/a |
35 | chr5:177614382-177614432 | HCT-116 | colon: | n/a |
36 | chr5:177614382-177614432 | NHBE | bronchial: | n/a |
37 | chr5:177614382-177614432 | HCPEpiC | choroid plexus: | n/a |
38 | chr5:177614382-177614432 | MCF10A-Er-Src | breast: | n/a |
39 | chr5:177614382-177614432 | HRCEpiC | kidney: | n/a |
40 | chr5:177614382-177614432 | LNCaP | prostate: | n/a |
41 | chr5:177614382-177614432 | PFSK-1 | brain: | n/a |
42 | chr5:177614382-177614432 | HRE | kidney: | n/a |
43 | chr5:177614382-177614432 | HIPEpiC | eye: | n/a |
44 | chr5:177614382-177614432 | PrEC | prostate: | n/a |
45 | chr5:177614382-177614432 | T-47D | breast: | n/a |
46 | chr5:177614382-177614432 | Caco-2 | colon: | n/a |
47 | chr5:177614382-177614432 | GM12878 | blood: | n/a |
48 | chr5:177614382-177614432 | IMR90 | lung: | fetal |
49 | chr5:177614382-177614432 | SK-N-SH_RA | brain: | n/a |
50 | chr5:177614382-177614432 | HepG2 | liver: | n/a |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr5:177613072..177615957-chr5:177659065..177661764,2 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AGXT2L2-1 | chr5:177611511-177614433 | NONHSAT105522 |
No data |
No data |
Variant related genes | Relation type |
---|---|
GMCL1P1 | TF binding region |
GMCL1P1 | CpG island |
ENSG00000175309 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10074768 | 0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11957129 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs11957135 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs13169133 | 0.88[ASN][1000 genomes] |
rs13179114 | 0.99[ASN][1000 genomes] |
rs13184406 | 0.88[ASN][1000 genomes] |
rs2961667 | 0.87[ASN][1000 genomes] |
rs6897795 | 0.90[ASN][1000 genomes] |
rs72648830 | 0.84[AFR][1000 genomes];0.90[ASN][1000 genomes] |
rs9329133 | 0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs9329135 | 0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs9329137 | 0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv948342 | chr5:177384542-178168737 | Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 141 gene(s) | inside rSNPs | diseases |
2 | nsv1029398 | chr5:177502106-178070654 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 136 gene(s) | inside rSNPs | diseases |
3 | nsv1019404 | chr5:177507080-177859089 | Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 126 gene(s) | inside rSNPs | diseases |
4 | nsv883190 | chr5:177532201-177620189 | Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 29 gene(s) | inside rSNPs | diseases |
5 | nsv1017664 | chr5:177578194-177633116 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 93 gene(s) | inside rSNPs | diseases |
6 | nsv482872 | chr5:177580298-177744381 | Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 106 gene(s) | inside rSNPs | diseases |
7 | nsv883193 | chr5:177591495-177620189 | Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
8 | nsv883194 | chr5:177604268-177620189 | Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:177609800-177621000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
2 | chr5:177614000-177620000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
3 | chr5:177614200-177614600 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
4 | chr5:177614400-177620000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |