Variant report
Variant | nsv557032 |
---|---|
Chromosome Location | chr12:2215383-2216588 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | rs113879464 | chr12:2215390-2215391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs112180169 | chr12:2215405-2215406 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs113648227 | chr12:2215414-2215415 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs12812822 | chr12:2215417-2215418 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs534319485 | chr12:2215431-2215432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs554182094 | chr12:2215434-2215435 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs12813716 | chr12:2215448-2215449 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs12818679 | chr12:2215453-2215454 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs12818685 | chr12:2215460-2215461 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs71293121 | chr12:2215466-2215467 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs377188534 | chr12:2215485-2215486 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs12813747 | chr12:2215486-2215487 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs112652155 | chr12:2215494-2215495 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs543137977 | chr12:2215512-2215513 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs71454859 | chr12:2215521-2215522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs71454860 | chr12:2215524-2215525 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs12811780 | chr12:2215565-2215566 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs376508388 | chr12:2215570-2215571 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs576646340 | chr12:2215573-2215574 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs71454861 | chr12:2215574-2215575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs546040868 | chr12:2215604-2215605 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs74210894 | chr12:2215626-2215627 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs376600831 | chr12:2215627-2215628 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs71454862 | chr12:2215645-2215646 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs12819085 | chr12:2215680-2215681 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs111522703 | chr12:2215698-2215699 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs373278863 | chr12:2215701-2215702 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs71454864 | chr12:2215710-2215711 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs201811555 | chr12:2215731-2215732 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs34908787 | chr12:2215734-2215735 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs71454868 | chr12:2215760-2215761 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs71454869 | chr12:2215763-2215764 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs71435031 | chr12:2215787-2215788 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs190726546 | chr12:2215790-2215791 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs71454870 | chr12:2215813-2215814 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs71454871 | chr12:2215816-2215817 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs528436180 | chr12:2215828-2215829 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs71057819 | chr12:2215836-2215837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs71435032 | chr12:2215841-2215842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs71454872 | chr12:2215858-2215859 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs541848703 | chr12:2215859-2215860 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs370227296 | chr12:2215894-2215895 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs562099400 | chr12:2215911-2215912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs71454863 | chr12:2215920-2215921 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs374255706 | chr12:2215947-2215948 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs368177309 | chr12:2215967-2215968 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs200720497 | chr12:2215974-2215975 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs531005634 | chr12:2215985-2215986 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs181496691 | chr12:2215989-2215990 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs551117610 | chr12:2215999-2216000 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Myelofibrosis | 22110671 | CNVD |
Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
Glaucoma | 21310917 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Malignant peripheral nerve sheath tumor | 19844265 | CNVD |
Squamous cell cancer | 19607727 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Breast cancer | 17133270 | CNVD |
Esophageal squamous carcinoma | 18405350 | CNVD |
Mental retardation | 17847001 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
abnormal development | 18461090 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Ovine squamous-cell carcinoma | 17599052 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Breast cancer | 22032731 | CNVD |
Cancer | 21183584 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Prostate cancer | 21965145 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Liposarcoma | 21253554 | CNVD |
Prostate cancer | 19156837 | CNVD |
Emphysema | 19352772 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Malignant germ cell tumour | 17285132 | CNVD |
Melanoma | 18172304 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Breast cancer | 21264507 | CNVD |
Cancer | 16751803 | CNVD |
Testicular cancer | 18059402 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Seminomas | 18059402 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Lung cancer | 20668451 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Malaria | 21533027 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Chronic lymphocytic leukemia | 21670202 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 21858162 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164919 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:2202800-2220200 | Weak transcription | Fetal Brain Female | brain |
2 | chr12:2207200-2223000 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr12:2208400-2226600 | Weak transcription | Brain Angular Gyrus | brain |
4 | chr12:2208600-2217000 | Weak transcription | Aorta | Aorta |
5 | chr12:2209000-2215400 | Weak transcription | Fetal Heart | heart |
6 | chr12:2211200-2221000 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
7 | chr12:2211600-2217400 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
8 | chr12:2211600-2222200 | Weak transcription | Spleen | Spleen |
9 | chr12:2211800-2217200 | Weak transcription | Stomach Smooth Muscle | stomach |
10 | chr12:2211800-2229000 | Weak transcription | Osteobl | bone |
11 | chr12:2214400-2216800 | Weak transcription | Colon Smooth Muscle | Colon |
12 | chr12:2214400-2216800 | Weak transcription | Rectal Smooth Muscle | rectum |
13 | chr12:2214400-2219400 | Weak transcription | Lung | lung |
14 | chr12:2214600-2217000 | Weak transcription | Duodenum Smooth Muscle | Duodenum |
15 | chr12:2214600-2221000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
16 | chr12:2214800-2216200 | Weak transcription | Left Ventricle | heart |
17 | chr12:2214800-2217000 | Weak transcription | Right Atrium | heart |
18 | chr12:2214800-2217200 | Weak transcription | Right Ventricle | heart |
19 | chr12:2215400-2215800 | Enhancers | Fetal Heart | heart |
20 | chr12:2215800-2216800 | Weak transcription | Fetal Heart | heart |
21 | chr12:2216200-2216400 | Enhancers | Left Ventricle | heart |
22 | chr12:2216400-2216800 | Weak transcription | Left Ventricle | heart |