Variant report
Variant | esv16635 |
---|---|
Chromosome Location | chr11:18165268-18194893 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:412)
- CpG islands (count:305)
- Chromatin interactive region (count:7)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | ARID3A | chr11:18194351-18194592 | HepG2 | liver: | n/a | n/a |
2 | ARID3A | chr11:18193081-18193472 | HepG2 | liver: | n/a | n/a |
3 | BHLHE40 | chr11:18166100-18166164 | GM12878 | blood: | n/a | n/a |
4 | CBX3 | chr11:18165709-18166352 | HCT-116 | colon: | n/a | n/a |
5 | CEBPB | chr11:18193077-18193257 | Hela-S3 | cervix: | n/a | n/a |
6 | CHD2 | chr11:18169620-18169896 | K562 | blood: | n/a | n/a |
7 | CREB1 | chr11:18192998-18193199 | A549 | lung: | n/a | n/a |
8 | CTCF | chr11:18166620-18166770 | GM12875 | blood: | n/a | n/a |
9 | CTCF | chr11:18192980-18193227 | GM19239 | blood: | n/a | chr11:18193103-18193112 |
10 | CTCF | chr11:18192971-18193246 | LNCaP | prostate: | n/a | chr11:18193103-18193112 |
11 | CTCF | chr11:18193020-18193170 | GM12866 | blood: | n/a | chr11:18193103-18193112 |
12 | CTCF | chr11:18192660-18192810 | HPAF | blood vessel: | n/a | n/a |
13 | CTCF | chr11:18193040-18193190 | GM12864 | blood: | n/a | chr11:18193103-18193112 |
14 | CTCF | chr11:18193020-18193170 | AG04449 | skin: | n/a | chr11:18193103-18193112 |
15 | CTCF | chr11:18166620-18166770 | HPAF | blood vessel: | n/a | n/a |
16 | CTCF | chr11:18193019-18193198 | GM13977 | blood: | n/a | chr11:18193103-18193112 |
17 | CTCF | chr11:18166720-18166870 | GM06990 | blood: | n/a | n/a |
18 | CTCF | chr11:18193300-18193452 | Hela-S3 | cervix: | n/a | n/a |
19 | CTCF | chr11:18166700-18166850 | HMF | breast: | n/a | n/a |
20 | CTCF | chr11:18192980-18193250 | SK-N-SH_RA | brain: | n/a | chr11:18193103-18193112 |
21 | CTCF | chr11:18192991-18193211 | MCF-7 | breast: | n/a | chr11:18193103-18193112 |
22 | CTCF | chr11:18192976-18193223 | NHEK | skin: | n/a | chr11:18193103-18193112 |
23 | CTCF | chr11:18192981-18193225 | GM19240 | blood: | n/a | chr11:18193103-18193112 |
24 | CTCF | chr11:18193060-18193210 | HBMEC | blood vessel: | n/a | chr11:18193103-18193112 |
25 | CTCF | chr11:18192785-18193591 | HCT-116 | colon: | n/a | chr11:18193103-18193112 |
26 | CTCF | chr11:18193040-18193190 | HEEpiC | esophagus: | n/a | chr11:18193103-18193112 |
27 | CTCF | chr11:18166720-18166870 | HA-sp | spinal cord: | n/a | n/a |
28 | CTCF | chr11:18192913-18193384 | GM12878 | blood: | n/a | chr11:18193103-18193112 |
29 | CTCF | chr11:18166660-18166810 | NB4 | blood: | n/a | n/a |
30 | CTCF | chr11:18166660-18166810 | HMF | breast: | n/a | n/a |
31 | CTCF | chr11:18193100-18193250 | Hela-S3 | cervix: | n/a | chr11:18193103-18193112 |
32 | CTCF | chr11:18193040-18193190 | GM12873 | blood: | n/a | chr11:18193103-18193112 |
33 | CTCF | chr11:18193040-18193190 | Caco-2 | colon: | n/a | chr11:18193103-18193112 |
34 | CTCF | chr11:18193040-18193190 | GM12870 | blood: | n/a | chr11:18193103-18193112 |
35 | CTCF | chr11:18192560-18192850 | GM12872 | blood: | n/a | n/a |
36 | CTCF | chr11:18193021-18193165 | Kidney_OC | kidney: | n/a | chr11:18193103-18193112 |
37 | CTCF | chr11:18166660-18166810 | GM12878 | blood: | n/a | n/a |
38 | CTCF | chr11:18193080-18193230 | GM12865 | blood: | n/a | chr11:18193103-18193112 |
39 | CTCF | chr11:18166740-18166890 | RPTEC | kidney: | n/a | n/a |
40 | CTCF | chr11:18193040-18193190 | GM12878 | blood: | n/a | chr11:18193103-18193112 |
41 | CTCF | chr11:18193020-18193170 | GM12873 | blood: | n/a | chr11:18193103-18193112 |
42 | CTCF | chr11:18166680-18166830 | HFF | foreskin: | n/a | n/a |
43 | CTCF | chr11:18193040-18193190 | GM12868 | blood: | n/a | chr11:18193103-18193112 |
44 | CTCF | chr11:18166592-18166937 | GM12878 | blood: | n/a | n/a |
45 | CTCF | chr11:18193020-18193170 | RPTEC | kidney: | n/a | chr11:18193103-18193112 |
46 | CTCF | chr11:18166660-18166810 | AoAF | blood vessel: | n/a | n/a |
47 | CTCF | chr11:18193000-18193150 | GM12871 | blood: | n/a | chr11:18193103-18193112 |
48 | CTCF | chr11:18193060-18193210 | SAEC | small airway: | n/a | chr11:18193103-18193112 |
49 | CTCF | chr11:18192954-18193264 | Gliobla | brain: | n/a | chr11:18193103-18193112 |
50 | CTCF | chr11:18166658-18166985 | MCF-7 | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:18193674-18193724 | PANC-1 | pancreas: | n/a |
2 | chr11:18172905-18172955 | HCT-116 | colon: | n/a |
3 | chr11:18172905-18172955 | HEEpiC | esophagus: | n/a |
4 | chr11:18193360-18193410 | ovcar-3 | ovarian: | n/a |
5 | chr11:18172905-18172955 | T-47D | breast: | n/a |
6 | chr11:18172905-18172955 | RPTEC | kidney: | n/a |
7 | chr11:18172905-18172955 | CMK | blood: | n/a |
8 | chr11:18193360-18193410 | Jurkat | blood: | n/a |
9 | chr11:18172905-18172955 | SKMC | muscle: | n/a |
10 | chr11:18193674-18193724 | Hepatocyte | liver: | n/a |
11 | chr11:18194514-18194564 | HL-60 | blood: | n/a |
12 | chr11:18193422-18193472 | HCT-116 | colon: | n/a |
13 | chr11:18194514-18194564 | AG09309 | skin: | n/a |
14 | chr11:18172905-18172955 | AoSMC | blood vessel: | n/a |
15 | chr11:18194514-18194564 | Hela-S3 | cervix: | n/a |
16 | chr11:18193422-18193472 | GM12892 | blood: | n/a |
17 | chr11:18193360-18193410 | AG04450 | lung: | fetal |
18 | chr11:18193674-18193724 | AG09319 | gingival: | n/a |
19 | chr11:18193674-18193724 | NT2-D1 | testis: | n/a |
20 | chr11:18193674-18193724 | A549 | lung: | n/a |
21 | chr11:18172905-18172955 | NHBE | bronchial: | n/a |
22 | chr11:18194514-18194564 | LNCaP | prostate: | n/a |
23 | chr11:18193360-18193410 | HEK293 | kidney: | embryo |
24 | chr11:18194514-18194564 | ECC-1 | luminal epithelium: | n/a |
25 | chr11:18172905-18172955 | Caco-2 | colon: | n/a |
26 | chr11:18193360-18193410 | AG09319 | gingival: | n/a |
27 | chr11:18193674-18193724 | HRPEpiC | eye: | n/a |
28 | chr11:18194514-18194564 | AG04450 | lung: | fetal |
29 | chr11:18194514-18194564 | AG10803 | skin: | n/a |
30 | chr11:18193422-18193472 | NB4 | blood: | n/a |
31 | chr11:18193422-18193472 | U87 | brain: | n/a |
32 | chr11:18193360-18193410 | MCF-7 | breast: | n/a |
33 | chr11:18193422-18193472 | K562 | blood: | n/a |
34 | chr11:18193360-18193410 | HMEC | breast: | n/a |
35 | chr11:18193422-18193472 | HEEpiC | esophagus: | n/a |
36 | chr11:18193422-18193472 | HRCEpiC | kidney: | n/a |
37 | chr11:18193674-18193724 | NH-A | brain: | n/a |
38 | chr11:18193422-18193472 | Hepatocyte | liver: | n/a |
39 | chr11:18193422-18193472 | GM12891 | blood: | n/a |
40 | chr11:18193422-18193472 | AG04450 | lung: | fetal |
41 | chr11:18194514-18194564 | HCF | heart: | n/a |
42 | chr11:18172905-18172955 | PFSK-1 | brain: | n/a |
43 | chr11:18194514-18194564 | HRE | kidney: | n/a |
44 | chr11:18194514-18194564 | NHDF-neo | bronchial: | n/a |
45 | chr11:18194514-18194564 | ovcar-3 | ovarian: | n/a |
46 | chr11:18193422-18193472 | HCM | heart: | n/a |
47 | chr11:18193360-18193410 | HNPCEpiC | eye: | n/a |
48 | chr11:18193674-18193724 | GM12891 | blood: | n/a |
49 | chr11:18172905-18172955 | HAEpiC | amniotic membrane: | n/a |
50 | chr11:18194514-18194564 | GM12892 | blood: | n/a |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr11:18192652..18193394-chr11:18672481..18673351,2 | K562 | blood: | |
2 | chr11:18137193..18137763-chr11:18192627..18193399,2 | MCF-7 | breast: | |
3 | chr11:18173467..18175393-chr11:18177019..18179182,2 | MCF-7 | breast: | |
4 | chr11:18193078..18193637-chr11:18785527..18786047,2 | K562 | blood: | |
5 | chr11:18013193..18013909-chr11:18166278..18166794,2 | MCF-7 | breast: | |
6 | chr11:18192847..18193418-chr11:18785532..18786067,2 | MCF-7 | breast: | |
7 | chr11:18192633..18193561-chr11:18225013..18225969,5 | MCF-7 | breast: |
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-MRGPRX3-2 | chr11:18174824-18175802 | NONHSAT018264 |
No data |
No data |
Variant related genes | Relation type |
---|---|
MRGPRX4 | TF binding region |
ENSG00000254857 | TF binding region |
MRGPRX4 | CpG island |
ENSG00000254857 | CpG island |
ENSG00000254857 | chromatin interactions |
ENSG00000166787 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs376542489 | chr11:18165285-18165286 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs564846498 | chr11:18165288-18165289 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs559448825 | chr11:18165339-18165340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs386751138 | chr11:18165340-18165341 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs369254825 | chr11:18165341-18165342 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs184714986 | chr11:18165342-18165343 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs9733982 | chr11:18165352-18165353 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs112684925 | chr11:18165366-18165367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs189211149 | chr11:18165397-18165398 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs533191716 | chr11:18165402-18165403 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs148959782 | chr11:18165427-18165428 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs569960969 | chr11:18165431-18165432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs181587693 | chr11:18165512-18165513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs9733998 | chr11:18165537-18165538 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs567275840 | chr11:18165552-18165553 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs534667459 | chr11:18165582-18165583 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs148098615 | chr11:18165591-18165592 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs58796192 | chr11:18165606-18165607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs75209748 | chr11:18165609-18165610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs572888687 | chr11:18165611-18165612 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs558153090 | chr11:18165624-18165625 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528567248 | chr11:18165649-18165650 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs186682899 | chr11:18165650-18165651 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs571485835 | chr11:18165664-18165665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs543727107 | chr11:18165678-18165679 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs76214427 | chr11:18165679-18165680 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs189957678 | chr11:18165687-18165688 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs573706362 | chr11:18165722-18165723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs16935044 | chr11:18165766-18165767 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs537714964 | chr11:18165789-18165790 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs559842172 | chr11:18165822-18165823 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs532958783 | chr11:18165853-18165854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs1378603 | chr11:18165883-18165884 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs372608388 | chr11:18165884-18165885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs1378604 | chr11:18165899-18165900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs141091712 | chr11:18165904-18165905 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs73432066 | chr11:18165924-18165925 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs567263680 | chr11:18165959-18165960 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528139977 | chr11:18166019-18166020 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs546356559 | chr11:18166033-18166034 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs181265938 | chr11:18166066-18166067 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs538372059 | chr11:18166087-18166088 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs150259952 | chr11:18166093-18166094 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs139016686 | chr11:18166097-18166098 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs142113629 | chr11:18166104-18166105 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs534401098 | chr11:18166107-18166108 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs186343798 | chr11:18166124-18166125 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs573692048 | chr11:18166130-18166131 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs113630600 | chr11:18166137-18166138 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs553174819 | chr11:18166152-18166153 | Enhancers ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 21183584 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Melanoma | 18172304 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Wilms tumour | 21544195 | CNVD |
Parathyroid adenoma | 22454399 | CNVD |
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Gastric cancer | 17908304 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Autism | 22495311 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 21858162 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
Lung cancer | 17086460 | CNVD |
Uterine serous papillary cancer | 19536090 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:18157200-18165600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr11:18164000-18166000 | Enhancers | HMEC | breast |
3 | chr11:18164800-18166600 | Enhancers | NHEK | skin |
4 | chr11:18165600-18166200 | Enhancers | HUVEC | blood vessel |
5 | chr11:18165600-18166800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr11:18166000-18166400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
7 | chr11:18166000-18166800 | ZNF genes & repeats | HMEC | breast |
8 | chr11:18166800-18168400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
9 | chr11:18167400-18167800 | Enhancers | Primary T cells fromperipheralblood | blood |
10 | chr11:18172400-18173600 | Enhancers | H1 Cell Line | embryonic stem cell |
11 | chr11:18172600-18173400 | Enhancers | H9 Cell Line | embryonic stem cell |
12 | chr11:18172800-18174200 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
13 | chr11:18175200-18175400 | Bivalent Enhancer | H1 Derived Mesenchymal Stem Cells | ES cell derived |
14 | chr11:18177800-18178000 | Enhancers | Pancreas | Pancrea |
15 | chr11:18180600-18180800 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
16 | chr11:18182000-18182200 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
17 | chr11:18186800-18187200 | Active TSS | GM12878-XiMat | blood |
18 | chr11:18189800-18190200 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
19 | chr11:18189800-18190400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
20 | chr11:18189800-18190400 | Enhancers | NHEK | skin |
21 | chr11:18189800-18190600 | Enhancers | HMEC | breast |
22 | chr11:18190000-18190600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
23 | chr11:18193400-18195800 | Enhancers | HepG2 | liver |
24 | chr11:18194600-18195600 | Enhancers | Primary B cells from peripheral blood | blood |