Variant report
Variant | rs183578 |
---|---|
Chromosome Location | chr11:64728586-64728587 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:7)
- CpG islands (count:61)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:7 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CEBPD | chr11:64728169-64728588 | K562 | blood: | n/a | n/a |
2 | CEBPD | chr11:64728138-64728590 | K562 | blood: | n/a | n/a |
3 | GATA3 | chr11:64728030-64728658 | SK-N-SH | brain: | n/a | n/a |
4 | GATA3 | chr11:64728098-64728600 | SK-N-SH | brain: | n/a | n/a |
5 | EP300 | chr11:64727815-64728759 | SK-N-SH | brain: | n/a | chr11:64728406-64728420 |
6 | GATA2 | chr11:64728144-64728594 | SH-SY5Y | brain: | n/a | n/a |
7 | GATA1 | chr11:64727747-64728761 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:64728559-64728609 | HMEC | breast: | n/a |
2 | chr11:64728559-64728609 | BJ | skin: | n/a |
3 | chr11:64728559-64728609 | LNCaP | prostate: | n/a |
4 | chr11:64728559-64728609 | PANC-1 | pancreas: | n/a |
5 | chr11:64728559-64728609 | HEEpiC | esophagus: | n/a |
6 | chr11:64728559-64728609 | GM12892 | blood: | n/a |
7 | chr11:64728559-64728609 | HCT-116 | colon: | n/a |
8 | chr11:64728559-64728609 | AoSMC | blood vessel: | n/a |
9 | chr11:64728559-64728609 | AG04450 | lung: | fetal |
10 | chr11:64728559-64728609 | CMK | blood: | n/a |
11 | chr11:64728559-64728609 | HepG2 | liver: | n/a |
12 | chr11:64728559-64728609 | SK-N-SH | brain: | n/a |
13 | chr11:64728559-64728609 | HCM | heart: | n/a |
14 | chr11:64728559-64728609 | H1-hESC | embryonic stem cell: | embryo |
15 | chr11:64728559-64728609 | AG10803 | skin: | n/a |
16 | chr11:64728559-64728609 | NB4 | blood: | n/a |
17 | chr11:64728559-64728609 | AG09319 | gingival: | n/a |
18 | chr11:64728559-64728609 | HIPEpiC | eye: | n/a |
19 | chr11:64728559-64728609 | SAEC | small airway: | n/a |
20 | chr11:64728559-64728609 | HUVEC | blood vessel: | n/a |
21 | chr11:64728559-64728609 | HNPCEpiC | eye: | n/a |
22 | chr11:64728559-64728609 | HAEpiC | amniotic membrane: | n/a |
23 | chr11:64728559-64728609 | PrEC | prostate: | n/a |
24 | chr11:64728559-64728609 | Hela-S3 | cervix: | n/a |
25 | chr11:64728559-64728609 | GM12891 | blood: | n/a |
26 | chr11:64728559-64728609 | ECC-1 | luminal epithelium: | n/a |
27 | chr11:64728559-64728609 | NT2-D1 | testis: | n/a |
28 | chr11:64728559-64728609 | NHDF-neo | bronchial: | n/a |
29 | chr11:64728559-64728609 | A549 | lung: | n/a |
30 | chr11:64728559-64728609 | NH-A | brain: | n/a |
31 | chr11:64728559-64728609 | RPTEC | kidney: | n/a |
32 | chr11:64728559-64728609 | AG04449 | skin: | fetal |
33 | chr11:64728559-64728609 | GM06990 | blood: | n/a |
34 | chr11:64728559-64728609 | HCPEpiC | choroid plexus: | n/a |
35 | chr11:64728559-64728609 | AG09309 | skin: | n/a |
36 | chr11:64728559-64728609 | GM12878 | blood: | n/a |
37 | chr11:64728559-64728609 | HEK293 | kidney: | embryo |
38 | chr11:64728559-64728609 | SK-N-SH_RA | brain: | n/a |
39 | chr11:64728559-64728609 | Caco-2 | colon: | n/a |
40 | chr11:64728559-64728609 | K562 | blood: | n/a |
41 | chr11:64728559-64728609 | Hepatocyte | liver: | n/a |
42 | chr11:64728559-64728609 | HPAEpiC | pulmonary alveolar: | n/a |
43 | chr11:64728559-64728609 | ProgFib | skin: | n/a |
44 | chr11:64728559-64728609 | HL-60 | blood: | n/a |
45 | chr11:64728559-64728609 | HRE | kidney: | n/a |
46 | chr11:64728559-64728609 | Jurkat | blood: | n/a |
47 | chr11:64728559-64728609 | T-47D | breast: | n/a |
48 | chr11:64728559-64728609 | SKMC | muscle: | n/a |
49 | chr11:64728559-64728609 | SK-N-MC | brain: | n/a |
50 | chr11:64728559-64728609 | MCF10A-Er-Src | breast: | n/a |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:64728080..64729823-chr11:64778498..64780871,2 | MCF-7 | breast: | |
2 | chr11:64727356..64729952-chr11:64739370..64742304,2 | K562 | blood: | |
3 | chr11:64691117..64693562-chr11:64726636..64728966,2 | K562 | blood: | |
4 | chr11:64689666..64692617-chr11:64726636..64729077,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
C11orf85 | TF binding region |
C11orf85 | CpG island |
ENSG00000068971 | Chromatin interaction |
ENSG00000168070 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10792454 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11231912 | 0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1152642 | 0.99[ASN][1000 genomes] |
rs1196617 | 0.94[ASN][1000 genomes] |
rs1196618 | 0.94[ASN][1000 genomes] |
rs1196903 | 0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12226283 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs183579 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs240568 | 0.95[ASN][1000 genomes] |
rs240569 | 0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs240570 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2670909 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs471772 | 0.90[ASN][1000 genomes] |
rs484182 | 0.81[CHB][hapmap] |
rs495330 | 0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs528941 | 0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs532508 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs534236 | 0.81[CHB][hapmap] |
rs551292 | 0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes] |
rs57751380 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs582378 | 0.90[ASN][1000 genomes] |
rs582580 | 0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes] |
rs586616 | 0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs587835 | 0.81[AMR][1000 genomes];0.97[ASN][1000 genomes] |
rs589351 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs596321 | 0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs600868 | 0.90[ASN][1000 genomes] |
rs602404 | 0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs610208 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs615709 | 0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs616124 | 0.89[ASN][1000 genomes] |
rs616341 | 0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs61893590 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs650506 | 0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs654772 | 0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs659122 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6591869 | 0.81[CHB][hapmap] |
rs660165 | 0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs663767 | 0.89[JPT][hapmap] |
rs664226 | 0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs670524 | 0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs674981 | 0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs688368 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs694907 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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 | nsv526181 | chr11:64638041-65257329 | Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 1539 gene(s) | inside rSNPs | diseases |
2 | nsv555208 | chr11:64645119-64771179 | Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 1029 gene(s) | inside rSNPs | diseases |
3 | nsv976460 | chr11:64727780-64743097 | Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:64726600-64728600 | Enhancers | NHEK | skin |
2 | chr11:64727000-64728600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr11:64727000-64728600 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
4 | chr11:64727000-64728800 | Enhancers | K562 | blood |
5 | chr11:64727800-64728600 | Enhancers | Fetal Intestine Small | intestine |
6 | chr11:64728000-64728600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
7 | chr11:64728000-64728600 | Enhancers | HepG2 | liver |
8 | chr11:64728400-64728600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |