Variant report
Variant | nsv546157 |
---|---|
Chromosome Location | chr1:45640553-45645097 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs548539994 | chr1:45640561-45640562 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs370034260 | chr1:45640570-45640571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs544379101 | chr1:45640593-45640594 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs556621750 | chr1:45640621-45640622 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs111718914 | chr1:45640639-45640640 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs368380600 | chr1:45640641-45640642 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs574506084 | chr1:45640653-45640654 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs148297429 | chr1:45640658-45640659 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563288612 | chr1:45640672-45640673 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs576866998 | chr1:45640681-45640682 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs141431519 | chr1:45640692-45640693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs187876487 | chr1:45640726-45640727 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs527962117 | chr1:45640734-45640735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs547996779 | chr1:45640764-45640765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs192774564 | chr1:45640795-45640796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs150847724 | chr1:45640805-45640806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs549820894 | chr1:45640816-45640817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs74824496 | chr1:45640817-45640818 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs139634094 | chr1:45640822-45640823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs552141285 | chr1:45640834-45640835 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs566000923 | chr1:45640839-45640840 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs184293266 | chr1:45641016-45641017 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs142930223 | chr1:45641032-45641033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs36102215 | chr1:45641041-45641042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs568130442 | chr1:45641054-45641055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs537152941 | chr1:45641060-45641061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs557048857 | chr1:45641096-45641097 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs561180332 | chr1:45641118-45641119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs577011226 | chr1:45641124-45641125 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs112155201 | chr1:45641137-45641138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs530248184 | chr1:45641160-45641161 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs552670160 | chr1:45641161-45641162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs572720836 | chr1:45641222-45641223 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs541327976 | chr1:45641225-45641226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs561537577 | chr1:45641253-45641254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs530183523 | chr1:45641280-45641281 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs543604001 | chr1:45641296-45641297 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs563480965 | chr1:45641306-45641307 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs547045945 | chr1:45641312-45641313 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs552571759 | chr1:45641325-45641326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs146124317 | chr1:45641390-45641391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs566857492 | chr1:45641399-45641400 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs548145470 | chr1:45641403-45641404 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs140161439 | chr1:45641442-45641443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs190807646 | chr1:45641451-45641452 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs2997465 | chr1:45641454-45641455 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
47 | rs570588949 | chr1:45641469-45641470 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192517428 | chr1:45641555-45641556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs540212418 | chr1:45641560-45641561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs552948793 | chr1:45641572-45641573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 20067559 | CNVD |
Melanoma | 18172304 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 17603634 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Muscle-eye-brain disease | 21572526 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21364760 | CNVD |
Breast cancer | 20680643 | CNVD |
Colorectal cancer | 19287155 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 22522925 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:45635600-45642400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr1:45638600-45642400 | Weak transcription | Hela-S3 | cervix |
3 | chr1:45638600-45643600 | Weak transcription | Fetal Intestine Large | intestine |
4 | chr1:45639000-45642600 | Weak transcription | Fetal Adrenal Gland | Adrenal Gland |
5 | chr1:45639000-45644800 | Weak transcription | A549 | lung |
6 | chr1:45639000-45645000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
7 | chr1:45640400-45640600 | Enhancers | HepG2 | liver |
8 | chr1:45640600-45645000 | Weak transcription | HepG2 | liver |
9 | chr1:45642400-45642800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
10 | chr1:45642400-45645000 | Enhancers | Hela-S3 | cervix |
11 | chr1:45642600-45643800 | Enhancers | Fetal Adrenal Gland | Adrenal Gland |
12 | chr1:45643000-45643400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
13 | chr1:45643000-45644200 | Enhancers | Small Intestine | intestine |
14 | chr1:45643200-45644000 | Enhancers | Rectal Mucosa Donor 31 | rectum |
15 | chr1:45643400-45644000 | Enhancers | Foreskin Fibroblast Primary Cells skin01 | Skin |
16 | chr1:45643600-45644200 | Enhancers | Fetal Intestine Large | intestine |
17 | chr1:45643800-45645800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
18 | chr1:45644800-45645800 | ZNF genes & repeats | A549 | lung |
19 | chr1:45645000-45645600 | Flanking Active TSS | Hela-S3 | cervix |
20 | chr1:45645000-45645600 | ZNF genes & repeats | HepG2 | liver |
21 | chr1:45645000-45646000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |