Variant report
Variant | nsv594692 |
---|---|
Chromosome Location | chr4:76964188-76974351 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:62)
- CpG islands (count:122)
- Chromatin interactive region (count:3)
- 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 | CEBPB | chr4:76973099-76973173 | K562 | blood: | n/a | chr4:76973117-76973128 |
2 | CEBPB | chr4:76972979-76973196 | HepG2 | liver: | n/a | chr4:76973117-76973128 |
3 | CEBPB | chr4:76972611-76973539 | Hela-S3 | cervix: | n/a | chr4:76973117-76973128 |
4 | FOS | chr4:76972619-76972863 | MCF10A-Er-Src | breast: | n/a | n/a |
5 | FOS | chr4:76972668-76972837 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | FOS | chr4:76972657-76972859 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | FOSL1 | chr4:76970337-76970577 | K562 | blood: | n/a | n/a |
8 | FOSL1 | chr4:76970234-76970511 | H1-hESC | embryonic stem cell: | n/a | n/a |
9 | FOSL1 | chr4:76970289-76970548 | H1-hESC | embryonic stem cell: | n/a | n/a |
10 | GATA3 | chr4:76972577-76973041 | MCF-7 | breast: | n/a | n/a |
11 | HA-E2F1 | chr4:76972485-76973049 | MCF-7 | breast: | n/a | n/a |
12 | HEY1 | chr4:76967905-76968134 | K562 | blood: | n/a | n/a |
13 | HEY1 | chr4:76968856-76969246 | K562 | blood: | n/a | n/a |
14 | HEY1 | chr4:76969595-76970232 | K562 | blood: | n/a | n/a |
15 | HEY1 | chr4:76970305-76971273 | K562 | blood: | n/a | n/a |
16 | MAX | chr4:76970355-76970649 | K562 | blood: | n/a | n/a |
17 | MYC | chr4:76970406-76970610 | K562 | blood: | n/a | n/a |
18 | NFYA | chr4:76971365-76971576 | K562 | blood: | n/a | n/a |
19 | NFYB | chr4:76971234-76971748 | K562 | blood: | n/a | n/a |
20 | NFYB | chr4:76963902-76964205 | K562 | blood: | n/a | n/a |
21 | PAX5 | chr4:76966276-76966501 | GM12878 | blood: | n/a | n/a |
22 | POLR2A | chr4:76969713-76970031 | K562 | blood: | n/a | n/a |
23 | POLR2A | chr4:76968319-76968737 | K562 | blood: | n/a | n/a |
24 | POLR2A | chr4:76968878-76969255 | K562 | blood: | n/a | n/a |
25 | POLR2A | chr4:76972676-76972871 | MCF10A-Er-Src | breast: | n/a | n/a |
26 | POLR2A | chr4:76966224-76966444 | H1-hESC | embryonic stem cell: | n/a | n/a |
27 | POLR2A | chr4:76971328-76971459 | K562 | blood: | n/a | n/a |
28 | POLR2A | chr4:76970406-76970551 | K562 | blood: | n/a | n/a |
29 | POLR2A | chr4:76971287-76971375 | K562 | blood: | n/a | n/a |
30 | POLR2A | chr4:76970435-76970697 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | POLR2A | chr4:76966993-76967178 | H1-hESC | embryonic stem cell: | n/a | n/a |
32 | POLR2A | chr4:76972738-76972898 | GM12878 | blood: | n/a | n/a |
33 | POLR2A | chr4:76966487-76967250 | K562 | blood: | n/a | n/a |
34 | POLR2A | chr4:76966287-76966432 | H1-hESC | embryonic stem cell: | n/a | n/a |
35 | POLR2A | chr4:76970913-76970938 | K562 | blood: | n/a | n/a |
36 | POLR2A | chr4:76966557-76967633 | K562 | blood: | n/a | n/a |
37 | POLR2A | chr4:76964708-76964920 | K562 | blood: | n/a | n/a |
38 | POLR2A | chr4:76970371-76971435 | K562 | blood: | n/a | n/a |
39 | POLR2A | chr4:76964354-76964757 | K562 | blood: | n/a | n/a |
40 | POLR2A | chr4:76970570-76970705 | H1-hESC | embryonic stem cell: | n/a | n/a |
41 | POLR2A | chr4:76965878-76966122 | K562 | blood: | n/a | n/a |
42 | POLR2A | chr4:76968062-76968268 | H1-hESC | embryonic stem cell: | n/a | n/a |
43 | POLR2A | chr4:76971316-76971447 | K562 | blood: | n/a | n/a |
44 | POLR2A | chr4:76967776-76968178 | K562 | blood: | n/a | n/a |
45 | POLR2A | chr4:76973130-76973214 | MCF10A-Er-Src | breast: | n/a | n/a |
46 | POLR2A | chr4:76968060-76968276 | H1-hESC | embryonic stem cell: | n/a | n/a |
47 | POLR2A | chr4:76970337-76971255 | K562 | blood: | n/a | n/a |
48 | POLR2A | chr4:76967813-76968180 | K562 | blood: | n/a | n/a |
49 | POLR2A | chr4:76968287-76968698 | K562 | blood: | n/a | n/a |
50 | POLR2A | chr4:76970377-76971267 | K562 | blood: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr4:76971098-76971148 | SK-N-SH_RA | brain: | n/a |
2 | chr4:76970912-76970962 | GM12891 | blood: | n/a |
3 | chr4:76970912-76970962 | AG10803 | skin: | n/a |
4 | chr4:76970912-76970962 | HRE | kidney: | n/a |
5 | chr4:76971098-76971148 | NB4 | blood: | n/a |
6 | chr4:76970912-76970962 | HL-60 | blood: | n/a |
7 | chr4:76970912-76970962 | PFSK-1 | brain: | n/a |
8 | chr4:76970912-76970962 | HCM | heart: | n/a |
9 | chr4:76970912-76970962 | AG04449 | skin: | fetal |
10 | chr4:76971098-76971148 | AG04449 | skin: | fetal |
11 | chr4:76971098-76971148 | BE2_C | brain: | n/a |
12 | chr4:76970912-76970962 | HMEC | breast: | n/a |
13 | chr4:76970912-76970962 | HCPEpiC | choroid plexus: | n/a |
14 | chr4:76971098-76971148 | HRCEpiC | kidney: | n/a |
15 | chr4:76970912-76970962 | MCF10A-Er-Src | breast: | n/a |
16 | chr4:76971098-76971148 | HEEpiC | esophagus: | n/a |
17 | chr4:76971098-76971148 | HAEpiC | amniotic membrane: | n/a |
18 | chr4:76971098-76971148 | HCPEpiC | choroid plexus: | n/a |
19 | chr4:76970912-76970962 | HNPCEpiC | eye: | n/a |
20 | chr4:76970912-76970962 | GM12892 | blood: | n/a |
21 | chr4:76971098-76971148 | SK-N-SH | brain: | n/a |
22 | chr4:76970912-76970962 | ovcar-3 | ovarian: | n/a |
23 | chr4:76970912-76970962 | SAEC | small airway: | n/a |
24 | chr4:76971098-76971148 | HIPEpiC | eye: | n/a |
25 | chr4:76970912-76970962 | MCF-7 | breast: | n/a |
26 | chr4:76971098-76971148 | SK-N-MC | brain: | n/a |
27 | chr4:76970912-76970962 | U87 | brain: | n/a |
28 | chr4:76971098-76971148 | PFSK-1 | brain: | n/a |
29 | chr4:76971098-76971148 | HCM | heart: | n/a |
30 | chr4:76970912-76970962 | H1-hESC | embryonic stem cell: | embryo |
31 | chr4:76971098-76971148 | NT2-D1 | testis: | n/a |
32 | chr4:76970912-76970962 | GM06990 | blood: | n/a |
33 | chr4:76971098-76971148 | HCF | heart: | n/a |
34 | chr4:76971098-76971148 | H1-hESC | embryonic stem cell: | embryo |
35 | chr4:76970912-76970962 | HepG2 | liver: | n/a |
36 | chr4:76971098-76971148 | U87 | brain: | n/a |
37 | chr4:76970912-76970962 | HEK293 | kidney: | embryo |
38 | chr4:76970912-76970962 | NHDF-neo | bronchial: | n/a |
39 | chr4:76971098-76971148 | GM06990 | blood: | n/a |
40 | chr4:76971098-76971148 | GM12892 | blood: | n/a |
41 | chr4:76971098-76971148 | NHBE | bronchial: | n/a |
42 | chr4:76971098-76971148 | HRPEpiC | eye: | n/a |
43 | chr4:76971098-76971148 | GM12891 | blood: | n/a |
44 | chr4:76970912-76970962 | T-47D | breast: | n/a |
45 | chr4:76970912-76970962 | HRCEpiC | kidney: | n/a |
46 | chr4:76971098-76971148 | GM12878 | blood: | n/a |
47 | chr4:76971098-76971148 | HMEC | breast: | n/a |
48 | chr4:76971098-76971148 | PrEC | prostate: | n/a |
49 | chr4:76970912-76970962 | Jurkat | blood: | n/a |
50 | chr4:76971098-76971148 | SAEC | small airway: | n/a |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-FAM47E-1 | chr4:76965316-76965818 | l_2670_chr4:76963126-76965818_testes |
No data |
No data |
Variant related genes | Relation type |
---|---|
CXCL11 | TF binding region |
CXCL11 | CpG island |
ENSG00000265931 | chromatin interactions |
ENSG00000169245 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7375677 | chr4:76964188-76964189 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs550815944 | chr4:76964194-76964195 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs681448 | chr4:76964195-76964196 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs569337666 | chr4:76964200-76964201 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs536676318 | chr4:76964209-76964210 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs140792689 | chr4:76964222-76964223 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
7 | rs566816017 | chr4:76964231-76964232 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs6532124 | chr4:76964303-76964304 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
9 | rs558771779 | chr4:76964346-76964347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs576987687 | chr4:76964350-76964351 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs373773047 | chr4:76964384-76964385 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs113245161 | chr4:76964432-76964433 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs555874918 | chr4:76964433-76964434 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs574174668 | chr4:76964435-76964436 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs6532126 | chr4:76964438-76964439 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
16 | rs371619968 | chr4:76964447-76964448 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs6824381 | chr4:76964470-76964471 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
18 | rs6849464 | chr4:76964471-76964472 | Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
19 | rs184310000 | chr4:76964472-76964473 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs565543048 | chr4:76964494-76964495 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs532611010 | chr4:76964497-76964498 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs562025942 | chr4:76964521-76964522 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs551177340 | chr4:76964528-76964529 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs569400517 | chr4:76964554-76964555 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs530212283 | chr4:76964567-76964568 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs529598545 | chr4:76964578-76964579 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs566877251 | chr4:76964581-76964582 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs534170898 | chr4:76964593-76964594 | Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs558595005 | chr4:76964624-76964625 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs560684130 | chr4:76964661-76964662 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs570711679 | chr4:76964665-76964666 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs537673129 | chr4:76964702-76964703 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs555938199 | chr4:76964709-76964710 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs188704801 | chr4:76964730-76964731 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs181080802 | chr4:76964755-76964756 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs553403296 | chr4:76964758-76964759 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs6824963 | chr4:76964779-76964780 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs6850104 | chr4:76964780-76964781 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
39 | rs531901125 | chr4:76964786-76964787 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs6855257 | chr4:76964788-76964789 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs544862887 | chr4:76964793-76964794 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs563085389 | chr4:76964801-76964802 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs530272389 | chr4:76964806-76964807 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs548723243 | chr4:76964808-76964809 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs71629030 | chr4:76964846-76964847 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
46 | rs141040304 | chr4:76964851-76964852 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
47 | rs149834326 | chr4:76964852-76964853 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | mRNA abundance |
48 | rs35035038 | chr4:76964881-76964882 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
49 | rs71629031 | chr4:76964893-76964894 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
50 | rs71629032 | chr4:76964918-76964919 | ZNF genes & repeats Enhancers Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Parkinson disease | 21956041 | CNVD |
Mental retardation | 20522426 | CNVD |
delayed speech | 20522426 | CNVD |
growth disorder | 20522426 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Parkinson disease | 18923514 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Chronic lymphocytic leukemia | 20421269 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Cancer | 22429812 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 21364760 | CNVD |
Autism | 18414403 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:76958200-76972600 | Weak transcription | Right Atrium | heart |
2 | chr4:76964400-76965000 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
3 | chr4:76964600-76965000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr4:76964600-76965400 | Enhancers | Primary T cells fromperipheralblood | blood |
5 | chr4:76965000-76977400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr4:76969600-76971200 | Active TSS | H1 Cell Line | embryonic stem cell |
7 | chr4:76969800-76970000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
8 | chr4:76970000-76971200 | Active TSS | K562 | blood |
9 | chr4:76970600-76971000 | Active TSS | iPS-15b Cell Line | embryonic stem cell |
10 | chr4:76971000-76974800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
11 | chr4:76971200-76975000 | Weak transcription | H1 Cell Line | embryonic stem cell |
12 | chr4:76972600-76972800 | Enhancers | Hela-S3 | cervix |
13 | chr4:76972800-76973400 | Enhancers | Primary monocytes fromperipheralblood | blood |
14 | chr4:76972800-76973400 | Active TSS | Hela-S3 | cervix |
15 | chr4:76973400-76973800 | Enhancers | Hela-S3 | cervix |
16 | chr4:76973400-76975000 | Weak transcription | Primary monocytes fromperipheralblood | blood |