Variant report
Variant | esv3320753 |
---|---|
Chromosome Location | chr1:159066011-159068366 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:1)
- 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 | chr1:159062221..159063748-chr1:159065497..159068342,2 | K562 | blood: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-IFI16-1 | chr1:159066801-159067405 | predAs_ge08_CD244_1 |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs375428803 | chr1:159066107-159066108 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs372426251 | chr1:159066128-159066129 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs576538037 | chr1:159066135-159066136 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs543597672 | chr1:159066158-159066159 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs565841979 | chr1:159066241-159066242 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182001800 | chr1:159066365-159066366 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs530876834 | chr1:159066416-159066417 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs143039887 | chr1:159066434-159066435 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs541060916 | chr1:159066486-159066487 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs553917278 | chr1:159066505-159066506 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs183605071 | chr1:159066542-159066543 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs374098190 | chr1:159066564-159066565 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs147109340 | chr1:159066630-159066631 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs138564326 | chr1:159066674-159066675 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs563348608 | chr1:159066710-159066711 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs149605845 | chr1:159066711-159066712 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187957836 | chr1:159066712-159066713 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs567595677 | chr1:159066720-159066721 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs144343067 | chr1:159066740-159066741 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs546297045 | chr1:159066759-159066760 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs571197297 | chr1:159066789-159066790 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs180932197 | chr1:159066808-159066809 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs76824366 | chr1:159066822-159066823 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs575242579 | chr1:159066926-159066927 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs537274071 | chr1:159066970-159066971 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
26 | rs577588845 | chr1:159066983-159066984 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
27 | rs555523031 | chr1:159067035-159067036 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
28 | rs148626090 | chr1:159067060-159067061 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
29 | rs116219911 | chr1:159067080-159067081 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
30 | rs559490813 | chr1:159067081-159067082 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
31 | rs577928186 | chr1:159067112-159067113 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
32 | rs545065703 | chr1:159067132-159067133 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs200347649 | chr1:159067148-159067149 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs563853030 | chr1:159067173-159067174 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs531005670 | chr1:159067208-159067209 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs542878360 | chr1:159067259-159067260 | Enhancers Weak transcription | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs375950489 | chr1:159067463-159067464 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs543388970 | chr1:159067471-159067472 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs528419760 | chr1:159067475-159067476 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs370881943 | chr1:159067478-159067479 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs546828436 | chr1:159067487-159067488 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs141198176 | chr1:159067492-159067493 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs35238382 | chr1:159067519-159067520 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs532177260 | chr1:159067535-159067536 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs550283917 | chr1:159067553-159067554 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs568643044 | chr1:159067613-159067614 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs535908994 | chr1:159067635-159067636 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs75041654 | chr1:159067683-159067684 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs567473662 | chr1:159067689-159067690 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs186412016 | chr1:159067694-159067695 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Liposarcoma | 21253554 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Cervical cancer | 21062161 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Lung cancer | 18438408 | CNVD |
Rett syndrome | 21593744 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Systemic lupus erythematosus | 21956041 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 17899364 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Type 2 diabetes | 19141583 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21509527 | CNVD |
Bladder cancer | 21909424 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Breast cancer | 21611746 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Systemic lupus erythematosus | 19220326 | CNVD |
Systemic lupus erythematosus | 19287148 | CNVD |
Glomerulonephritis | 19341492 | CNVD |
Systemic lupus erythematosus | 18559452 | CNVD |
Systemic autoimmune disease | 17597778 | CNVD |
Glomerulonephritis | 17008540 | CNVD |
Glomerulonephritis | 16482158 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Cancer | 17060936 | CNVD |
Lung cancer | 16740712 | CNVD |
Breast cancer | 21045282 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Cancer | 20164920 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Follicular lymphoma | 18703704 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intracranial ependymoma | 16609018 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:159063400-159067000 | Weak transcription | Primary monocytes fromperipheralblood | blood |
2 | chr1:159063400-159067000 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
3 | chr1:159064400-159066800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr1:159064800-159066800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr1:159065200-159066600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr1:159065200-159066600 | Enhancers | NHEK | skin |
7 | chr1:159065400-159066400 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
8 | chr1:159065400-159066800 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
9 | chr1:159065600-159066200 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
10 | chr1:159065600-159066600 | Enhancers | HMEC | breast |
11 | chr1:159065800-159066200 | Enhancers | HUVEC | blood vessel |
12 | chr1:159066400-159066600 | Enhancers | Muscle Satellite Cultured Cells | -- |
13 | chr1:159066400-159067400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
14 | chr1:159066800-159068800 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
15 | chr1:159066800-159071800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
16 | chr1:159067000-159067400 | Enhancers | Primary monocytes fromperipheralblood | blood |
17 | chr1:159067000-159067400 | Enhancers | Monocytes-CD14+_RO01746 | blood |
18 | chr1:159067400-159071800 | Weak transcription | Primary monocytes fromperipheralblood | blood |
19 | chr1:159067400-159072200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
20 | chr1:159067400-159073400 | Weak transcription | Monocytes-CD14+_RO01746 | blood |