Variant report
Variant | nsv511879 |
---|---|
Chromosome Location | chr6:35103668-35106088 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:34924286..34927204-chr6:35101773..35103995,2 | K562 | blood: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs557979927 | chr6:35103677-35103678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs184582795 | chr6:35103787-35103788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs560748312 | chr6:35103817-35103818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs565461034 | chr6:35103836-35103837 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs368866548 | chr6:35103853-35103854 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs189149465 | chr6:35103873-35103874 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs200759685 | chr6:35103893-35103894 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs529870463 | chr6:35103903-35103904 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs371952210 | chr6:35103918-35103919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs202046288 | chr6:35103950-35103951 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs374423102 | chr6:35103955-35103956 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs199809733 | chr6:35103966-35103967 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs370605224 | chr6:35103968-35103969 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs549793202 | chr6:35103973-35103974 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs374601449 | chr6:35103980-35103981 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs11539275 | chr6:35103991-35103992 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs564020275 | chr6:35104015-35104016 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs12661389 | chr6:35104018-35104019 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs7756026 | chr6:35104072-35104073 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs181557937 | chr6:35104118-35104119 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs565950260 | chr6:35104120-35104121 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs528208924 | chr6:35104132-35104133 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs186190026 | chr6:35104150-35104151 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs568036360 | chr6:35104190-35104191 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs528886585 | chr6:35104224-35104225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs190646220 | chr6:35104249-35104250 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs201130491 | chr6:35104259-35104260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs569176507 | chr6:35104278-35104279 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs55829099 | chr6:35104293-35104294 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs181509496 | chr6:35104308-35104309 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs386700109 | chr6:35104331-35104332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs186480087 | chr6:35104333-35104334 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs191151567 | chr6:35104334-35104335 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs369600291 | chr6:35104366-35104367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs533946673 | chr6:35104432-35104433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs62404565 | chr6:35104489-35104490 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs56222941 | chr6:35104771-35104772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs377264448 | chr6:35104934-35104935 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs370010008 | chr6:35104935-35104936 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs542250969 | chr6:35104949-35104950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs557075718 | chr6:35105060-35105061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs575062627 | chr6:35105090-35105091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs546075956 | chr6:35105102-35105103 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs564408414 | chr6:35105112-35105113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs528684771 | chr6:35105164-35105165 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs368452869 | chr6:35105167-35105168 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs535492113 | chr6:35105203-35105204 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs561859908 | chr6:35105248-35105249 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs537675951 | chr6:35105283-35105284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs528975315 | chr6:35105347-35105348 | Weak transcription | 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 |
Acute myeloid leukemia | 20729466 | 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 |
Esophageal adenocarcinoma | 18820669 | 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 |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Schizophrenia | 19571808 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 16397240 | CNVD |
Retinoblastoma | 22278416 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Systemic lupus erythematosus | 20877625 | CNVD |
Cleidocranial dysplasia | 18696259 | CNVD |
Holoprosencephaly | 21359414 | CNVD |
Liposarcoma | 21253554 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Fibroblasts | 20926602 | CNVD |
Systemic lupus erythematosus | 19279649 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Acute myocardial infarction | 18032375 | CNVD |
Renal cell carcinoma | 19150565 | CNVD |
Systemic lupus erythematosus | 19591781 | CNVD |
Attention deficit hyperactivity disorder | 19287146 | CNVD |
Autism | 19287146 | CNVD |
Erythema nodosum in leprosy | 19287146 | CNVD |
Henoch-schoenlein purpura | 19287146 | CNVD |
Liver cirrhosis | 19287146 | CNVD |
Systemic lupus erythematosus | 19287146 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Congenital adrenal hyperplasia | 18478071 | CNVD |
Systemic lupus erythematosus | 19287147 | 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 |
Cancer | 22183965 | CNVD |
Melanoma | 22183965 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Chronic lymphocytic leukemia | 22228453 | CNVD |
Glioblastoma multiforme | 21510904 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
small cell lung cancer | 17426248 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:35103600-35104200 | Enhancers | GM12878-XiMat | blood |
2 | chr6:35103800-35104000 | Enhancers | Brain Cingulate Gyrus | brain |
3 | chr6:35103800-35104000 | Enhancers | Duodenum Smooth Muscle | Duodenum |
4 | chr6:35103800-35104000 | Enhancers | Ovary | ovary |
5 | chr6:35103800-35104200 | Enhancers | Primary B cells from peripheral blood | blood |
6 | chr6:35103800-35104200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
7 | chr6:35104000-35104200 | Enhancers | Adipose Nuclei | Adipose |
8 | chr6:35104000-35104200 | Enhancers | Fetal Lung | lung |
9 | chr6:35104000-35108600 | Weak transcription | Ovary | ovary |
10 | chr6:35104200-35105400 | Weak transcription | Adipose Nuclei | Adipose |
11 | chr6:35104200-35108000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr6:35104200-35108000 | Weak transcription | Fetal Lung | lung |
13 | chr6:35104400-35114000 | Weak transcription | Brain Cingulate Gyrus | brain |
14 | chr6:35105000-35108800 | Weak transcription | Primary mononuclear cells fromperipheralblood | Blood |
15 | chr6:35105400-35106000 | Enhancers | Adipose Nuclei | Adipose |
16 | chr6:35105400-35106200 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
17 | chr6:35105800-35106000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
18 | chr6:35105800-35106000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
19 | chr6:35105800-35106000 | Enhancers | Fetal Brain Female | brain |
20 | chr6:35105800-35106000 | Enhancers | Fetal Heart | heart |
21 | chr6:35105800-35106400 | Enhancers | Brain Hippocampus Middle | brain |
22 | chr6:35106000-35106200 | Enhancers | Brain Dorsolateral Prefrontal Cortex | brain |
23 | chr6:35106000-35106200 | Enhancers | Skeletal Muscle Male | skeletal muscle |
24 | chr6:35106000-35107200 | Enhancers | Liver | Liver |
25 | chr6:35106000-35108000 | Weak transcription | Adipose Nuclei | Adipose |
26 | chr6:35106000-35110400 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
27 | chr6:35106000-35113600 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |