Variant report
Variant | esv14026 |
---|---|
Chromosome Location | chr6:44511814-44515528 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-AARS2-2 | chr6:44513902-44514193 | NONHSAT112964 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs551497345 | chr6:44511819-44511820 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141220811 | chr6:44511827-44511828 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs373232370 | chr6:44511828-44511829 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs577396024 | chr6:44511909-44511910 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs544759555 | chr6:44511918-44511919 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs116261819 | chr6:44511927-44511928 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs575431248 | chr6:44512025-44512026 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs542596171 | chr6:44512056-44512057 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs571152867 | chr6:44512113-44512114 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs145026818 | chr6:44512190-44512191 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs554028896 | chr6:44512218-44512219 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs146784595 | chr6:44512288-44512289 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs149121203 | chr6:44512303-44512304 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs376915214 | chr6:44512333-44512334 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs544535549 | chr6:44512339-44512340 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs563198072 | chr6:44512357-44512358 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs371650628 | chr6:44512387-44512388 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs71564613 | chr6:44512398-44512399 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs115362327 | chr6:44512415-44512416 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs550524735 | chr6:44512417-44512418 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs568963946 | chr6:44512474-44512475 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs536357030 | chr6:44512485-44512486 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs548166196 | chr6:44512490-44512491 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs185369078 | chr6:44512518-44512519 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs534204045 | chr6:44512527-44512528 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs559236014 | chr6:44512571-44512572 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs577481328 | chr6:44512624-44512625 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs533534410 | chr6:44512675-44512676 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs114564970 | chr6:44512686-44512687 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs556481906 | chr6:44512697-44512698 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs575367807 | chr6:44512702-44512703 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs148252825 | chr6:44512754-44512755 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs190662755 | chr6:44512758-44512759 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs6458394 | chr6:44512783-44512784 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs141240804 | chr6:44512789-44512790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs180839807 | chr6:44512833-44512834 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs532310706 | chr6:44512882-44512883 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs550712709 | chr6:44513048-44513049 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs576268568 | chr6:44513115-44513116 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs5875883 | chr6:44513116-44513117 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs369775344 | chr6:44513117-44513118 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs527767792 | chr6:44513136-44513137 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs137966561 | chr6:44513139-44513140 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs185489684 | chr6:44513171-44513172 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs566509546 | chr6:44513182-44513183 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs534162115 | chr6:44513223-44513224 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs143511515 | chr6:44513244-44513245 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs571077714 | chr6:44513253-44513254 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs538164508 | chr6:44513324-44513325 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs556793756 | chr6:44513333-44513334 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 16790693 | CNVD |
Cervical cancer | 21062161 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Cleidocranial dysplasia | 18696259 | CNVD |
Holoprosencephaly | 21359414 | CNVD |
Liposarcoma | 21253554 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Fibroblasts | 20926602 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Osteosarcoma | 21197465 | CNVD |
Gastric cancer | 24379144 | CNVD |
Neuroblastoma | 18923191 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21364760 | CNVD |
Colorectal cancer | 16790693 | CNVD |
Congenital adrenal hyperplasia | 18478071 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Systemic lupus erythematosus | 19287148 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Chordoma | 18071362 | CNVD |
Follicular lymphoma | 16790693 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Neurocytoma | 17123091 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Ovarian cancer | 20844748 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Cancer | 20164919 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Breast cancer | 22522925 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:44509800-44513000 | Weak transcription | H9 Cell Line | embryonic stem cell |
2 | chr6:44511000-44513000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
3 | chr6:44511000-44516000 | Weak transcription | HSMMtube | muscle |
4 | chr6:44511000-44516800 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr6:44511400-44512200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
6 | chr6:44511400-44512800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr6:44511600-44512200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr6:44511600-44512200 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
9 | chr6:44511600-44512600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
10 | chr6:44511600-44512800 | Weak transcription | Psoas Muscle | Psoas |
11 | chr6:44511800-44512000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
12 | chr6:44512200-44512400 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
13 | chr6:44512200-44512600 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
14 | chr6:44512600-44513000 | Enhancers | Skeletal Muscle Male | skeletal muscle |
15 | chr6:44512800-44513000 | Enhancers | Psoas Muscle | Psoas |
16 | chr6:44512800-44513400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
17 | chr6:44513000-44513200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
18 | chr6:44513000-44513200 | Weak transcription | Psoas Muscle | Psoas |
19 | chr6:44513000-44513600 | Enhancers | H9 Cell Line | embryonic stem cell |
20 | chr6:44513400-44523800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |