Variant report
Variant | esv3386171 |
---|---|
Chromosome Location | chr8:120081021-120083019 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:160)
- CpG islands (count:61)
- Chromatin interactive region (count:3)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:120082684-120082734 | NB4 | blood: | n/a |
2 | chr8:120082684-120082734 | MCF-7 | breast: | n/a |
3 | chr8:120082684-120082734 | RPTEC | kidney: | n/a |
4 | chr8:120082684-120082734 | AG04449 | skin: | fetal |
5 | chr8:120082684-120082734 | NT2-D1 | testis: | n/a |
6 | chr8:120082684-120082734 | LNCaP | prostate: | n/a |
7 | chr8:120082684-120082734 | AG10803 | skin: | n/a |
8 | chr8:120082684-120082734 | HMEC | breast: | n/a |
9 | chr8:120082684-120082734 | NH-A | brain: | n/a |
10 | chr8:120082684-120082734 | PrEC | prostate: | n/a |
11 | chr8:120082684-120082734 | HPAEpiC | pulmonary alveolar: | n/a |
12 | chr8:120082684-120082734 | BJ | skin: | n/a |
13 | chr8:120082684-120082734 | HIPEpiC | eye: | n/a |
14 | chr8:120082684-120082734 | AG09319 | gingival: | n/a |
15 | chr8:120082684-120082734 | SK-N-SH | brain: | n/a |
16 | chr8:120082684-120082734 | GM19239 | blood: | n/a |
17 | chr8:120082684-120082734 | PANC-1 | pancreas: | n/a |
18 | chr8:120082684-120082734 | SK-N-MC | brain: | n/a |
19 | chr8:120082684-120082734 | NHDF-neo | bronchial: | n/a |
20 | chr8:120082684-120082734 | IMR90 | lung: | fetal |
21 | chr8:120082684-120082734 | Jurkat | blood: | n/a |
22 | chr8:120082684-120082734 | BE2_C | brain: | n/a |
23 | chr8:120082684-120082734 | SK-N-SH_RA | brain: | n/a |
24 | chr8:120082684-120082734 | HEK293 | kidney: | embryo |
25 | chr8:120082684-120082734 | K562 | blood: | n/a |
26 | chr8:120082684-120082734 | GM12891 | blood: | n/a |
27 | chr8:120082684-120082734 | H1-hESC | embryonic stem cell: | embryo |
28 | chr8:120082684-120082734 | ProgFib | skin: | n/a |
29 | chr8:120082684-120082734 | ovcar-3 | ovarian: | n/a |
30 | chr8:120082684-120082734 | HAEpiC | amniotic membrane: | n/a |
31 | chr8:120082684-120082734 | GM12878 | blood: | n/a |
32 | chr8:120082684-120082734 | ECC-1 | luminal epithelium: | n/a |
33 | chr8:120082684-120082734 | AoSMC | blood vessel: | n/a |
34 | chr8:120082684-120082734 | HNPCEpiC | eye: | n/a |
35 | chr8:120082684-120082734 | PFSK-1 | brain: | n/a |
36 | chr8:120082684-120082734 | CMK | blood: | n/a |
37 | chr8:120082684-120082734 | MCF10A-Er-Src | breast: | n/a |
38 | chr8:120082684-120082734 | T-47D | breast: | n/a |
39 | chr8:120082684-120082734 | GM12892 | blood: | n/a |
40 | chr8:120082684-120082734 | SKMC | muscle: | n/a |
41 | chr8:120082684-120082734 | HL-60 | blood: | n/a |
42 | chr8:120082684-120082734 | HRPEpiC | eye: | n/a |
43 | chr8:120082684-120082734 | Hepatocyte | liver: | n/a |
44 | chr8:120082684-120082734 | HEEpiC | esophagus: | n/a |
45 | chr8:120082684-120082734 | GM06990 | blood: | n/a |
46 | chr8:120082684-120082734 | HRCEpiC | kidney: | n/a |
47 | chr8:120082684-120082734 | HepG2 | liver: | n/a |
48 | chr8:120082684-120082734 | HCF | heart: | n/a |
49 | chr8:120082684-120082734 | AG04450 | lung: | fetal |
50 | chr8:120082684-120082734 | Hela-S3 | cervix: | n/a |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TNFRSF11B-1 | chr8:120079913-120081021 | ENSG00000254278.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000254278 | TF binding region |
ENSG00000254278 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2247769 | chr8:120081031-120081032 | Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs563097561 | chr8:120081053-120081054 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528245647 | chr8:120081066-120081067 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs60594924 | chr8:120081067-120081068 | Active TSS Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs543552486 | chr8:120081103-120081104 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs151018660 | chr8:120081138-120081139 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs139550626 | chr8:120081155-120081156 | Active TSS Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547439785 | chr8:120081277-120081278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs560016942 | chr8:120081331-120081332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs530368614 | chr8:120081442-120081443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs371781037 | chr8:120081445-120081446 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs55781186 | chr8:120081573-120081574 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs570300221 | chr8:120081597-120081598 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs537637279 | chr8:120081630-120081631 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs568423954 | chr8:120081718-120081719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs570435018 | chr8:120081739-120081740 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs56805630 | chr8:120081842-120081843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs138362458 | chr8:120081845-120081846 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs200630910 | chr8:120081862-120081863 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs67408054 | chr8:120081865-120081866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs375440332 | chr8:120081870-120081871 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs183621145 | chr8:120081897-120081898 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs552668168 | chr8:120081903-120081904 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs188314384 | chr8:120082044-120082045 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs201524024 | chr8:120082060-120082061 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs1485299 | chr8:120082104-120082105 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs373683269 | chr8:120082120-120082121 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs377627200 | chr8:120082146-120082147 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs556829370 | chr8:120082161-120082162 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs575143443 | chr8:120082162-120082163 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs545572115 | chr8:120082171-120082172 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs537386824 | chr8:120082175-120082176 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs116051187 | chr8:120082199-120082200 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs1485300 | chr8:120082253-120082254 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs73325487 | chr8:120082276-120082277 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs530106405 | chr8:120082307-120082308 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs548945570 | chr8:120082339-120082340 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs146548464 | chr8:120082343-120082344 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs563947613 | chr8:120082399-120082400 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs571916196 | chr8:120082420-120082421 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs116764763 | chr8:120082434-120082435 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs552463926 | chr8:120082450-120082451 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs570551926 | chr8:120082476-120082477 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs539900055 | chr8:120082595-120082596 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs534375311 | chr8:120082633-120082634 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs546586185 | chr8:120082638-120082639 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs5005858 | chr8:120082681-120082682 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs72069083 | chr8:120082686-120082687 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs184098110 | chr8:120082687-120082688 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs202188663 | chr8:120082695-120082696 | Weak transcription ZNF genes & repeats Enhancers Active TSS | TF binding regionCpG island | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Medulloblastoma | 21979893 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Gastric cancer | 17908304 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Seminomas | 18059402 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Pancreatic cancer | 21811587 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Testicular cancer | 18059402 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21509527 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
abnormal development | 18461090 | CNVD |
Oral cancer | 21386901 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Langer-Giedion syndrome | 22283845 | CNVD |
Cancer | 21637783 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 20632083 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 19602461 | CNVD |
Cancer | 22429812 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Oral cancer | 19627613 | CNVD |
Prostate cancer | 21088497 | CNVD |
colon cancer | 17210682 | CNVD |
Breast cancer | 21264507 | CNVD |
Breast cancer | 22028636 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Cancer | 16751803 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Gastric cancer | 17167181 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Breast cancer | 16461572 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
head and neck squamous cell carcinoma | 18028549 | CNVD |
Breast cancer | 17001317 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Prostate cancer | 16573809 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Adenocarcinoma | 21044232 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 16461572 | CNVD |
Breast cancer | 21399628 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 17393978 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Breast cancer | 17899364 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Breast cancer | 21611746 | CNVD |
Developmental delay | 21147756 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Non-small cell lung cancer | 19010865 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Papillary thyroid cancer | 17515504 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Cancer | 20164920 | CNVD |
Breast cancer | 20932292 | CNVD |
Gastric cancer | 22539939 | CNVD |
Breast cancer | 22056952 | CNVD |
Langer-Giedion syndrome | 16773131 | CNVD |
Lung cancer | 16740712 | CNVD |
Mental retardation | 16773131 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Langer-Giedion syndrome | 22470819 | CNVD |
Cornelia de Lange syndrome | 24599119 | CNVD |
Gastric cancer | 21528007 | CNVD |
Breast cancer | 22532251 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21129771 | CNVD |
benign familial neonatal convulsions | 18472482 | CNVD |
Breast cancer | 16417655 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21183584 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Breast cancer | 20814816 | CNVD |
Colorectal cancer | 22486879 | CNVD |
Breast cancer | 17908964 | CNVD |
Colorectal cancer | 20031965 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Ovarian cancer | 17908964 | CNVD |
Ovarian cancer | 20031965 | CNVD |
Prostate cancer | 20031965 | CNVD |
Non-small cell lung cancer | 17643093 | CNVD |
Prostate cancer | 19242612 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Malignant melanoma | 17260012 | CNVD |
Breast cancer | 18698023 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Uveal melanoma | 20484589 | CNVD |
head and neck squamous cell carcinoma | 16740747 | CNVD |
Breast cancer | 19181860 | CNVD |
Endometrial cancer | 23636398 | CNVD |
Intracranial aneurysm | 16715129 | CNVD |
Breast cancer | 16397240 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Breast cancer | 21364760 | CNVD |
Oral squamous cell carcinoma | 21853135 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Prostate cancer | 22341455 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:120080000-120082400 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr8:120080000-120082600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr8:120080600-120081200 | Active TSS | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
4 | chr8:120080600-120082000 | Weak transcription | Hela-S3 | cervix |
5 | chr8:120080600-120082200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
6 | chr8:120080600-120083400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
7 | chr8:120080600-120085200 | Weak transcription | Fetal Stomach | stomach |
8 | chr8:120080800-120084200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
9 | chr8:120082000-120082800 | Enhancers | Hela-S3 | cervix |
10 | chr8:120082200-120082600 | Enhancers | NHDF-Ad | bronchial |
11 | chr8:120082200-120084400 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
12 | chr8:120082400-120082600 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
13 | chr8:120082400-120082800 | Enhancers | Fetal Brain Male | brain |
14 | chr8:120082400-120083200 | Enhancers | NHLF | lung |
15 | chr8:120082600-120083000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
16 | chr8:120082600-120083000 | Active TSS | Breast Myoepithelial Primary Cells | Breast |
17 | chr8:120082600-120083200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
18 | chr8:120082600-120083600 | Weak transcription | NHDF-Ad | bronchial |
19 | chr8:120083000-120083400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr8:120083000-120084600 | Enhancers | Osteobl | bone |