Variant report
Variant | rs61746304 |
---|---|
Chromosome Location | chr2:58478722-58478723 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:30)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:30 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | POLR2A | chr2:58478569-58479002 | Hela-S3 | cervix: | n/a | n/a |
2 | GABPA | chr2:58478490-58478928 | Hela-S3 | cervix: | n/a | n/a |
3 | POLR2A | chr2:58478548-58478742 | MCF-7 | breast: | n/a | n/a |
4 | GABPA | chr2:58478573-58478901 | HepG2 | liver: | n/a | n/a |
5 | TAF1 | chr2:58478520-58478905 | HepG2 | liver: | n/a | n/a |
6 | ZBTB33 | chr2:58478526-58479270 | K562 | blood: | n/a | n/a |
7 | TAF1 | chr2:58478595-58478936 | H1-hESC | embryonic stem cell: | n/a | n/a |
8 | HEY1 | chr2:58478571-58478992 | K562 | blood: | n/a | n/a |
9 | YY1 | chr2:58478594-58478924 | A549 | lung: | n/a | n/a |
10 | POLR2A | chr2:58478565-58478725 | GM12878 | blood: | n/a | n/a |
11 | POLR2A | chr2:58478486-58478887 | GM12878 | blood: | n/a | n/a |
12 | POLR2A | chr2:58478699-58478949 | H1-hESC | embryonic stem cell: | n/a | n/a |
13 | HEY1 | chr2:58478565-58478743 | K562 | blood: | n/a | n/a |
14 | POLR2A | chr2:58478626-58478748 | A549 | lung: | n/a | n/a |
15 | POLR2A | chr2:58478552-58478929 | GM12892 | blood: | n/a | n/a |
16 | MYC | chr2:58478687-58478935 | MCF-7 | breast: | n/a | n/a |
17 | POLR2A | chr2:58478476-58478891 | Gliobla | brain: | n/a | n/a |
18 | POLR2A | chr2:58478674-58478741 | H1-hESC | embryonic stem cell: | n/a | n/a |
19 | POLR2A | chr2:58478596-58478883 | GM12878 | blood: | n/a | n/a |
20 | POLR2A | chr2:58478650-58479179 | A549 | lung: | n/a | n/a |
21 | POLR2A | chr2:58478549-58478921 | HepG2 | liver: | n/a | n/a |
22 | POLR2A | chr2:58478522-58478800 | Hela-S3 | cervix: | n/a | n/a |
23 | GABPA | chr2:58478581-58478828 | GM12878 | blood: | n/a | n/a |
24 | POLR2A | chr2:58478564-58478852 | A549 | lung: | n/a | n/a |
25 | POLR2A | chr2:58478598-58478984 | Hela-S3 | cervix: | n/a | n/a |
26 | POLR2A | chr2:58478585-58478868 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | POLR2A | chr2:58478493-58478791 | H1-hESC | embryonic stem cell: | n/a | n/a |
28 | TAF1 | chr2:58478479-58478920 | H1-hESC | embryonic stem cell: | n/a | n/a |
29 | POLR2A | chr2:58478506-58479271 | H1-hESC | embryonic stem cell: | n/a | n/a |
30 | POLR2A | chr2:58478596-58478780 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:58478696-58478746 | HL-60 | blood: | n/a |
2 | chr2:58478696-58478746 | HMEC | breast: | n/a |
3 | chr2:58478696-58478746 | NT2-D1 | testis: | n/a |
4 | chr2:58478696-58478746 | K562 | blood: | n/a |
5 | chr2:58478696-58478746 | GM12891 | blood: | n/a |
6 | chr2:58478696-58478746 | HCM | heart: | n/a |
7 | chr2:58478696-58478746 | HepG2 | liver: | n/a |
8 | chr2:58478696-58478746 | HCPEpiC | choroid plexus: | n/a |
9 | chr2:58478696-58478746 | BE2_C | brain: | n/a |
10 | chr2:58478696-58478746 | HNPCEpiC | eye: | n/a |
11 | chr2:58478696-58478746 | AG10803 | skin: | n/a |
12 | chr2:58478696-58478746 | SKMC | muscle: | n/a |
13 | chr2:58478696-58478746 | SK-N-SH | brain: | n/a |
14 | chr2:58478696-58478746 | HPAEpiC | pulmonary alveolar: | n/a |
15 | chr2:58478696-58478746 | AG04450 | lung: | fetal |
16 | chr2:58478696-58478746 | GM12878 | blood: | n/a |
17 | chr2:58478696-58478746 | Hepatocyte | liver: | n/a |
18 | chr2:58478696-58478746 | IMR90 | lung: | fetal |
19 | chr2:58478696-58478746 | HEK293 | kidney: | embryo |
20 | chr2:58478696-58478746 | ProgFib | skin: | n/a |
21 | chr2:58478696-58478746 | Jurkat | blood: | n/a |
22 | chr2:58478696-58478746 | MCF10A-Er-Src | breast: | n/a |
23 | chr2:58478696-58478746 | AG09309 | skin: | n/a |
24 | chr2:58478696-58478746 | SK-N-MC | brain: | n/a |
25 | chr2:58478696-58478746 | GM19239 | blood: | n/a |
26 | chr2:58478696-58478746 | ECC-1 | luminal epithelium: | n/a |
27 | chr2:58478696-58478746 | Hela-S3 | cervix: | n/a |
28 | chr2:58478696-58478746 | HCT-116 | colon: | n/a |
29 | chr2:58478696-58478746 | HCF | heart: | n/a |
30 | chr2:58478696-58478746 | RPTEC | kidney: | n/a |
31 | chr2:58478696-58478746 | CMK | blood: | n/a |
32 | chr2:58478696-58478746 | HUVEC | blood vessel: | n/a |
33 | chr2:58478696-58478746 | SAEC | small airway: | n/a |
34 | chr2:58478696-58478746 | HIPEpiC | eye: | n/a |
35 | chr2:58478696-58478746 | HAEpiC | amniotic membrane: | n/a |
36 | chr2:58478696-58478746 | MCF-7 | breast: | n/a |
37 | chr2:58478696-58478746 | HRCEpiC | kidney: | n/a |
38 | chr2:58478696-58478746 | H1-hESC | embryonic stem cell: | embryo |
39 | chr2:58478696-58478746 | HEEpiC | esophagus: | n/a |
40 | chr2:58478696-58478746 | NHBE | bronchial: | n/a |
41 | chr2:58478696-58478746 | Caco-2 | colon: | n/a |
42 | chr2:58478696-58478746 | HRE | kidney: | n/a |
43 | chr2:58478696-58478746 | PrEC | prostate: | n/a |
44 | chr2:58478696-58478746 | AoSMC | blood vessel: | n/a |
45 | chr2:58478696-58478746 | GM06990 | blood: | n/a |
46 | chr2:58478696-58478746 | NH-A | brain: | n/a |
47 | chr2:58478696-58478746 | A549 | lung: | n/a |
48 | chr2:58478696-58478746 | NHDF-neo | bronchial: | n/a |
49 | chr2:58478696-58478746 | LNCaP | prostate: | n/a |
50 | chr2:58478696-58478746 | PANC-1 | pancreas: | n/a |
No data |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FANCL-4 | chr2:58478585-58479810 | NONHSAT070851 |
No data |
No data |
Variant related genes | Relation type |
---|---|
EIF3FP3 | TF binding region |
EIF3FP3 | CpG island |
rs_ID | r2[population] |
---|---|
rs10184957 | 0.86[EUR][1000 genomes] |
rs11903212 | 0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12616896 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12624152 | 1.00[AFR][1000 genomes];0.80[EUR][1000 genomes] |
rs12713376 | 0.89[EUR][1000 genomes] |
rs12988249 | 1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13006005 | 0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs13017949 | 0.81[ASN][1000 genomes] |
rs13023405 | 1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs13032851 | 1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs13410228 | 0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs13422760 | 0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs1404457 | 1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs1404459 | 0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs1404460 | 0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs34335951 | 0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs34556232 | 1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs35341336 | 1.00[AFR][1000 genomes] |
rs35773188 | 1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs35925771 | 1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs3755296 | 0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs3771222 | 1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs55809167 | 0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs57267169 | 0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6709533 | 0.90[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs6714952 | 0.86[EUR][1000 genomes] |
rs6752935 | 0.89[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs7558066 | 0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7561771 | 0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999042 | chr2:58326123-58530903 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
2 | nsv535734 | chr2:58326123-58530903 | ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
3 | nsv979006 | chr2:58477513-58480966 | Inactive region | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
No data |