Variant report
Variant | nsv608999 |
---|---|
Chromosome Location | chr7:150567741-150572382 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:150568033..150570583-chr7:150684396..150686354,2 | MCF-7 | breast: | |
2 | chr7:150572299..150575283-chr7:150617480..150621735,3 | K562 | blood: | |
3 | chr7:150562856..150565769-chr7:150566346..150570295,3 | K562 | blood: | |
4 | chr7:150570270..150572638-chr7:150573385..150575681,2 | K562 | blood: | |
5 | chr7:150570280..150573172-chr7:150702825..150704695,2 | K562 | blood: | |
6 | chr7:150564458..150567179-chr7:150567861..150571641,4 | K562 | blood: | |
7 | chr7:150567773..150569879-chr7:150653213..150655593,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ABP1-1 | chr7:150568035-150568307 | expRegAs_chr7_12357_+ |
2 | lnc-ABP1-2 | chr7:150568389-150569059 | predAs_engstrom06_BM715580_1 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs4266560 | chr7:150567741-150567742 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs537558858 | chr7:150567892-150567893 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs73165562 | chr7:150567934-150567935 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs574114576 | chr7:150567949-150567950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs533508599 | chr7:150567991-150567992 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs554066103 | chr7:150568028-150568029 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs73468632 | chr7:150568069-150568070 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs142308816 | chr7:150568084-150568085 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
9 | rs146115989 | chr7:150568090-150568091 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
10 | rs113344058 | chr7:150568125-150568126 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
11 | rs576263648 | chr7:150568127-150568128 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
12 | rs553750054 | chr7:150568131-150568132 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
13 | rs189821005 | chr7:150568132-150568133 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
14 | rs530153152 | chr7:150568144-150568145 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
15 | rs369140859 | chr7:150568147-150568148 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
16 | rs78209717 | chr7:150568152-150568153 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
17 | rs540243240 | chr7:150568242-150568243 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
18 | rs560888097 | chr7:150568346-150568347 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs532687534 | chr7:150568390-150568391 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs182131375 | chr7:150568397-150568398 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs187163621 | chr7:150568417-150568418 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs11767097 | chr7:150568518-150568519 | Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs190996353 | chr7:150568530-150568531 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs138674730 | chr7:150568548-150568549 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs149233747 | chr7:150568583-150568584 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs542499289 | chr7:150568600-150568601 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs563731320 | chr7:150568609-150568610 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs570764041 | chr7:150568644-150568645 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs539359967 | chr7:150568648-150568649 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs556376024 | chr7:150568767-150568768 | Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs576319796 | chr7:150568803-150568804 | ZNF genes & repeats Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs144496394 | chr7:150568832-150568833 | ZNF genes & repeats Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs575763090 | chr7:150568845-150568846 | ZNF genes & repeats Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs11770409 | chr7:150568865-150568866 | ZNF genes & repeats Weak transcription | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs574983445 | chr7:150568942-150568943 | ZNF genes & repeats Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs182148942 | chr7:150569067-150569068 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs564585035 | chr7:150569072-150569073 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs148019285 | chr7:150569131-150569132 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs184936380 | chr7:150569204-150569205 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs62492377 | chr7:150569226-150569227 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs562804846 | chr7:150569255-150569256 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs141677449 | chr7:150569267-150569268 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs548350213 | chr7:150569293-150569294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs146133727 | chr7:150569322-150569323 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs386719407 | chr7:150569325-150569326 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs73165563 | chr7:150569326-150569327 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
47 | rs569131756 | chr7:150569338-150569339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs140117871 | chr7:150569387-150569388 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs539390207 | chr7:150569414-150569415 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs4725379 | chr7:150569544-150569545 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 17603634 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Schizophrenia | 17646849 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Autism | 20808228 | CNVD |
Breast cancer | 21509527 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Heart disease | 21282601 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 21045282 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Lobular carcinoma | 20920651 | CNVD |
Long-qt syndrome | 20920651 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Long-qt syndrome | 17576883 | CNVD |
Bradycardia syndrome | 17576883 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
renal disease | 17924346 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Adrenocortical carcinoma | 18281524 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:150563000-150573800 | Weak transcription | Fetal Stomach | stomach |
2 | chr7:150564200-150573800 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
3 | chr7:150565000-150573000 | Weak transcription | Ovary | ovary |
4 | chr7:150567400-150573000 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
5 | chr7:150568800-150569000 | ZNF genes & repeats | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr7:150569000-150576600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
7 | chr7:150572000-150572200 | ZNF genes & repeats | IMR90 fetal lung fibroblasts Cell Line | lung |
8 | chr7:150572000-150574400 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
9 | chr7:150572200-150573800 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |