Variant report
Variant | nsv1013248 |
---|---|
Chromosome Location | chr3:84717911-84774750 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:128)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:18)
- 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 | BACH1 | chr3:84730033-84730076 | H1-hESC | embryonic stem cell: | n/a | n/a |
2 | BRCA1 | chr3:84774057-84774336 | Hela-S3 | cervix: | n/a | n/a |
3 | CEBPB | chr3:84734687-84734980 | Hela-S3 | cervix: | n/a | chr3:84734701-84734713 |
4 | CEBPB | chr3:84741121-84741376 | HepG2 | liver: | n/a | chr3:84741271-84741282 |
5 | CEBPB | chr3:84734630-84734980 | H1-hESC | embryonic stem cell: | n/a | chr3:84734701-84734713 |
6 | CEBPB | chr3:84718976-84719301 | HepG2 | liver: | n/a | chr3:84719116-84719129 chr3:84719190-84719203 chr3:84719117-84719128 |
7 | CEBPB | chr3:84734637-84734996 | HepG2 | liver: | n/a | chr3:84734701-84734713 |
8 | CEBPB | chr3:84734656-84734969 | K562 | blood: | n/a | chr3:84734701-84734713 |
9 | CEBPB | chr3:84767168-84767493 | HepG2 | liver: | n/a | chr3:84767339-84767348 chr3:84767338-84767349 chr3:84767337-84767348 |
10 | CEBPB | chr3:84734635-84734997 | IMR90 | lung: | n/a | chr3:84734701-84734713 |
11 | CTCF | chr3:84760983-84761034 | LNCaP | prostate: | n/a | n/a |
12 | CTCF | chr3:84760816-84760868 | GM13976 | blood: | n/a | n/a |
13 | CTCF | chr3:84770857-84770903 | ProgFib | skin: | n/a | n/a |
14 | CTCF | chr3:84770911-84770979 | GM13976 | blood: | n/a | n/a |
15 | CTCF | chr3:84774204-84774274 | MCF-7 | breast: | n/a | n/a |
16 | CTCF | chr3:84744700-84744850 | WERI-Rb-1 | eye: | n/a | n/a |
17 | CTCF | chr3:84770868-84770893 | MCF-7 | breast: | n/a | n/a |
18 | CTCF | chr3:84759548-84759599 | LNCaP | prostate: | n/a | n/a |
19 | CTCF | chr3:84727613-84727639 | Kidney_OC | kidney: | n/a | n/a |
20 | E2F4 | chr3:84751273-84751481 | MCF10A-Er-Src | breast: | n/a | n/a |
21 | E2F4 | chr3:84754924-84755118 | MCF10A-Er-Src | breast: | n/a | n/a |
22 | E2F4 | chr3:84774078-84774317 | MCF10A-Er-Src | breast: | n/a | n/a |
23 | EBF1 | chr3:84774102-84774360 | GM12878 | blood: | n/a | chr3:84774284-84774295 |
24 | EBF1 | chr3:84774045-84774680 | GM12878 | blood: | n/a | chr3:84774284-84774295 |
25 | EP300 | chr3:84774119-84774390 | Hela-S3 | cervix: | n/a | n/a |
26 | FOS | chr3:84744743-84744964 | MCF10A-Er-Src | breast: | n/a | n/a |
27 | FOS | chr3:84774019-84774461 | MCF10A-Er-Src | breast: | n/a | n/a |
28 | FOS | chr3:84741439-84741755 | MCF10A-Er-Src | breast: | n/a | n/a |
29 | FOS | chr3:84729089-84729090 | MCF10A-Er-Src | breast: | n/a | n/a |
30 | FOS | chr3:84734357-84734555 | MCF10A-Er-Src | breast: | n/a | chr3:84734435-84734442 |
31 | FOS | chr3:84774059-84774676 | MCF10A-Er-Src | breast: | n/a | n/a |
32 | FOS | chr3:84744788-84744988 | MCF10A-Er-Src | breast: | n/a | n/a |
33 | FOS | chr3:84741431-84741749 | MCF10A-Er-Src | breast: | n/a | n/a |
34 | FOS | chr3:84741454-84741724 | MCF10A-Er-Src | breast: | n/a | n/a |
35 | FOS | chr3:84744399-84745016 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | FOS | chr3:84744795-84744996 | MCF10A-Er-Src | breast: | n/a | n/a |
37 | FOS | chr3:84773996-84774673 | MCF10A-Er-Src | breast: | n/a | n/a |
38 | FOS | chr3:84774032-84774466 | MCF10A-Er-Src | breast: | n/a | n/a |
39 | FOSL2 | chr3:84774017-84774477 | SK-N-SH | brain: | n/a | n/a |
40 | GATA3 | chr3:84719200-84719312 | SH-SY5Y | brain: | n/a | n/a |
41 | IRF1 | chr3:84747298-84747371 | K562 | blood: | n/a | n/a |
42 | JUN | chr3:84774145-84774418 | HepG2 | liver: | n/a | n/a |
43 | JUN | chr3:84774050-84774423 | Hela-S3 | cervix: | n/a | n/a |
44 | JUND | chr3:84774124-84774418 | HepG2 | liver: | n/a | chr3:84774274-84774285 |
45 | JUND | chr3:84774056-84774461 | Hela-S3 | cervix: | n/a | chr3:84774274-84774285 |
46 | JUND | chr3:84734282-84734555 | HepG2 | liver: | n/a | chr3:84734432-84734443 chr3:84734435-84734442 |
47 | JUND | chr3:84728642-84728841 | H1-hESC | embryonic stem cell: | n/a | n/a |
48 | JUND | chr3:84734352-84734535 | H1-hESC | embryonic stem cell: | n/a | chr3:84734432-84734443 chr3:84734435-84734442 |
49 | MAFF | chr3:84728433-84728711 | HepG2 | liver: | n/a | n/a |
50 | MAFF | chr3:84729848-84730231 | HepG2 | liver: | n/a | chr3:84730038-84730056 chr3:84730044-84730058 |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-VGLL3-9 | chr3:84770247-84771053 | ucscGeneNc_uc003dqi_2 |
2 | lnc-VGLL3-6 | chr3:84715551-84719007 | ENSG00000242641.1 |
3 | lnc-VGLL3-10 | chr3:84740832-84741742 | NONHSAT090650 |
4 | lnc-VGLL3-6 | chr3:84732760-84732829 | NONHSAT090649 |
5 | lnc-VGLL3-6 | chr3:84744516-84744666 | NONHSAT090649 |
6 | lnc-VGLL3-6 | chr3:84721772-84722056 | NONHSAT090649 |
7 | lnc-VGLL3-6 | chr3:84744861-84745033 | NONHSAT090649 |
8 | lnc-VGLL3-6 | chr3:84720735-84720854 | NONHSAT090649 |
9 | lnc-VGLL3-6 | chr3:84721772-84722056 | ENSG00000242641.1 |
10 | lnc-VGLL3-6 | chr3:84715551-84719007 | NONHSAT090649 |
11 | lnc-VGLL3-6 | chr3:84744516-84744666 | ENSG00000242641.1 |
12 | lnc-VGLL3-6 | chr3:84734791-84734931 | ENSG00000242641.1 |
13 | lnc-VGLL3-6 | chr3:84732760-84732829 | ENSG00000242641.1 |
14 | lnc-VGLL3-6 | chr3:84734791-84734931 | NONHSAT090649 |
15 | lnc-VGLL3-6 | chr3:84744861-84745033 | ENSG00000242641.1 |
16 | lnc-VGLL3-6 | chr3:84745309-84745492 | NONHSAT090649 |
17 | lnc-VGLL3-6 | chr3:84745309-84745492 | ENSG00000242641.1 |
18 | lnc-VGLL3-6 | chr3:84720735-84720854 | ENSG00000242641.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000241776 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs536338041 | chr3:84717915-84717916 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
2 | rs144885450 | chr3:84717938-84717939 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
3 | rs576649473 | chr3:84717964-84717965 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
4 | rs9834714 | chr3:84717981-84717982 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs565354331 | chr3:84717985-84717986 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
6 | rs568421310 | chr3:84718019-84718020 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
7 | rs535500011 | chr3:84718084-84718085 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
8 | rs140765728 | chr3:84718126-84718127 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs9835018 | chr3:84718146-84718147 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs564637454 | chr3:84718169-84718170 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs557926040 | chr3:84718177-84718178 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs370408158 | chr3:84718182-84718183 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs543862621 | chr3:84718183-84718184 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs578192104 | chr3:84718184-84718185 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs562265429 | chr3:84718187-84718188 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs574061344 | chr3:84718267-84718268 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs373125926 | chr3:84718308-84718309 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs541446285 | chr3:84718322-84718323 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
19 | rs79171792 | chr3:84718382-84718383 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs189019901 | chr3:84718422-84718423 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs191879604 | chr3:84718445-84718446 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs62255480 | chr3:84718471-84718472 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs144616355 | chr3:84718482-84718483 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs138734033 | chr3:84718505-84718506 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs527448306 | chr3:84718517-84718518 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs9839313 | chr3:84718534-84718535 | Inactive region | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs185584000 | chr3:84718545-84718546 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs547451152 | chr3:84718555-84718556 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs542729607 | chr3:84718636-84718637 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs566111280 | chr3:84718727-84718728 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs539733697 | chr3:84718745-84718746 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs558038212 | chr3:84718776-84718777 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs372929589 | chr3:84718791-84718792 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs368486252 | chr3:84718835-84718836 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs576182536 | chr3:84718854-84718855 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs143549132 | chr3:84718866-84718867 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs555575976 | chr3:84718903-84718904 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs559771309 | chr3:84718922-84718923 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs574429146 | chr3:84718945-84718946 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs541956012 | chr3:84718949-84718950 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs148041251 | chr3:84718954-84718955 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs572019380 | chr3:84718956-84718957 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs546076325 | chr3:84718982-84718983 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs111791869 | chr3:84720221-84720222 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs192416805 | chr3:84720281-84720282 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs111995901 | chr3:84720295-84720296 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs183805270 | chr3:84720319-84720320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs553549511 | chr3:84720322-84720323 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565755477 | chr3:84720356-84720357 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs9830050 | chr3:84720360-84720361 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Melanoma | 18172304 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Wilms tumour | 21544195 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Breast cancer | 21858162 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Medulloblastoma | 16783165 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Mental retardation | 17124404 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Schizophrenia | 23813976 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:84720200-84722000 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr3:84722000-84729800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr3:84729800-84730400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
4 | chr3:84731600-84732000 | Active TSS | Fetal Heart | heart |
5 | chr3:84732800-84733400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
6 | chr3:84741400-84741800 | Enhancers | Primary monocytes fromperipheralblood | blood |
7 | chr3:84744600-84744800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
8 | chr3:84744800-84745000 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr3:84759000-84759200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
10 | chr3:84759200-84759400 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
11 | chr3:84759200-84759600 | Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr3:84759400-84759800 | Active TSS | Monocytes-CD14+_RO01746 | blood |
13 | chr3:84759800-84760200 | Enhancers | Primary monocytes fromperipheralblood | blood |
14 | chr3:84759800-84760200 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
15 | chr3:84760200-84762400 | Weak transcription | Primary monocytes fromperipheralblood | blood |
16 | chr3:84760200-84762600 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
17 | chr3:84762400-84762600 | Enhancers | Primary monocytes fromperipheralblood | blood |
18 | chr3:84762600-84763000 | Weak transcription | Primary monocytes fromperipheralblood | blood |
19 | chr3:84762600-84763200 | Enhancers | Monocytes-CD14+_RO01746 | blood |
20 | chr3:84763000-84763400 | Enhancers | Primary monocytes fromperipheralblood | blood |
21 | chr3:84766600-84767400 | Enhancers | Psoas Muscle | Psoas |
22 | chr3:84767200-84767600 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
23 | chr3:84767200-84767600 | Enhancers | Skeletal Muscle Male | skeletal muscle |
24 | chr3:84767200-84767600 | Enhancers | Skeletal Muscle Female | skeletal muscle |
25 | chr3:84773800-84775000 | Enhancers | Muscle Satellite Cultured Cells | -- |
26 | chr3:84774200-84774800 | Enhancers | HSMM | muscle |