Variant report
Variant | nsv869940 |
---|---|
Chromosome Location | chr1:102641285-102861815 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:391)
- CpG islands (count:122)
- Chromatin interactive region (count:6)
- LncRNA region (count:14)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:102700608-102700658 | BJ | skin: | n/a |
2 | chr1:102700639-102700689 | HRCEpiC | kidney: | n/a |
3 | chr1:102700639-102700689 | Caco-2 | colon: | n/a |
4 | chr1:102700608-102700658 | GM12878 | blood: | n/a |
5 | chr1:102700608-102700658 | HRE | kidney: | n/a |
6 | chr1:102700608-102700658 | ECC-1 | luminal epithelium: | n/a |
7 | chr1:102700608-102700658 | HL-60 | blood: | n/a |
8 | chr1:102700608-102700658 | SK-N-SH_RA | brain: | n/a |
9 | chr1:102700608-102700658 | MCF10A-Er-Src | breast: | n/a |
10 | chr1:102700608-102700658 | Hepatocyte | liver: | n/a |
11 | chr1:102700639-102700689 | BJ | skin: | n/a |
12 | chr1:102700639-102700689 | PrEC | prostate: | n/a |
13 | chr1:102700639-102700689 | RPTEC | kidney: | n/a |
14 | chr1:102700639-102700689 | SK-N-MC | brain: | n/a |
15 | chr1:102700608-102700658 | GM19239 | blood: | n/a |
16 | chr1:102700639-102700689 | GM06990 | blood: | n/a |
17 | chr1:102700608-102700658 | GM06990 | blood: | n/a |
18 | chr1:102700639-102700689 | HRE | kidney: | n/a |
19 | chr1:102700639-102700689 | NH-A | brain: | n/a |
20 | chr1:102700608-102700658 | U87 | brain: | n/a |
21 | chr1:102700608-102700658 | Jurkat | blood: | n/a |
22 | chr1:102700639-102700689 | HEEpiC | esophagus: | n/a |
23 | chr1:102700608-102700658 | PFSK-1 | brain: | n/a |
24 | chr1:102700639-102700689 | BE2_C | brain: | n/a |
25 | chr1:102700639-102700689 | HPAEpiC | pulmonary alveolar: | n/a |
26 | chr1:102700608-102700658 | HRCEpiC | kidney: | n/a |
27 | chr1:102700608-102700658 | NT2-D1 | testis: | n/a |
28 | chr1:102700608-102700658 | SKMC | muscle: | n/a |
29 | chr1:102700608-102700658 | HNPCEpiC | eye: | n/a |
30 | chr1:102700639-102700689 | ovcar-3 | ovarian: | n/a |
31 | chr1:102700608-102700658 | PANC-1 | pancreas: | n/a |
32 | chr1:102700639-102700689 | H1-hESC | embryonic stem cell: | embryo |
33 | chr1:102700639-102700689 | PFSK-1 | brain: | n/a |
34 | chr1:102700639-102700689 | GM12878 | blood: | n/a |
35 | chr1:102700608-102700658 | NHDF-neo | bronchial: | n/a |
36 | chr1:102700639-102700689 | AG10803 | skin: | n/a |
37 | chr1:102700608-102700658 | NHBE | bronchial: | n/a |
38 | chr1:102700608-102700658 | HPAEpiC | pulmonary alveolar: | n/a |
39 | chr1:102700608-102700658 | RPTEC | kidney: | n/a |
40 | chr1:102700639-102700689 | HNPCEpiC | eye: | n/a |
41 | chr1:102700639-102700689 | HCT-116 | colon: | n/a |
42 | chr1:102700639-102700689 | GM12891 | blood: | n/a |
43 | chr1:102700639-102700689 | ProgFib | skin: | n/a |
44 | chr1:102700639-102700689 | HCPEpiC | choroid plexus: | n/a |
45 | chr1:102700639-102700689 | AG04450 | lung: | fetal |
46 | chr1:102700608-102700658 | SK-N-MC | brain: | n/a |
47 | chr1:102700639-102700689 | HEK293 | kidney: | embryo |
48 | chr1:102700639-102700689 | SK-N-SH | brain: | n/a |
49 | chr1:102700639-102700689 | AG04449 | skin: | fetal |
50 | chr1:102700639-102700689 | HIPEpiC | eye: | n/a |
(count:6 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:102285335..102286320-chr1:102656866..102657699,4 | MCF-7 | breast: | |
2 | chr1:102701228..102703682-chr1:102706014..102708929,2 | K562 | blood: | |
3 | chr1:102701228..102703682-chr1:102706014..102708929,2 | K562 | blood: | |
4 | chr1:102459133..102459923-chr1:102657241..102657780,2 | MCF-7 | breast: | |
5 | chr1:102685538..102686359-chr1:201441216..201441918,2 | MCF-7 | breast: | |
6 | chr1:102816532..102818032-chr6:130363143..130365830,2 | MCF-7 | breast: |
(count:14 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OLFM3-1 | chr1:102775826-102775884 | XLOC_000943 |
2 | lnc-OLFM3-1 | chr1:102852918-102852977 | XLOC_000943 |
3 | lnc-OLFM3-1 | chr1:102665295-102665553 | XLOC_000943 |
4 | lnc-OLFM3-1 | chr1:102854091-102854185 | XLOC_000943 |
5 | lnc-OLFM3-1 | chr1:102852644-102852807 | XLOC_000943 |
6 | lnc-OLFM3-1 | chr1:102855050-102855186 | XLOC_000943 |
7 | lnc-OLFM3-1 | chr1:102854091-102854185 | XLOC_000943 |
8 | lnc-OLFM3-1 | chr1:102830569-102830793 | XLOC_000943 |
9 | lnc-OLFM3-1 | chr1:102854091-102854120 | XLOC_000943 |
10 | lnc-OLFM3-1 | chr1:102855050-102855163 | XLOC_000943 |
11 | lnc-OLFM3-1 | chr1:102775825-102775884 | XLOC_000943 |
12 | lnc-OLFM3-1 | chr1:102852918-102852977 | XLOC_000943 |
13 | lnc-OLFM3-1 | chr1:102853515-102853765 | XLOC_000943 |
14 | lnc-OLFM3-1 | chr1:102852761-102852807 | XLOC_000943 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000233359 | TF binding region |
ENSG00000233359 | CpG island |
PRNP | miRNA target sites |
MEST | miRNA target sites |
LNX2 | miRNA target sites |
GCET2 | miRNA target sites |
C1orf103 | miRNA target sites |
SYNE2 | miRNA target sites |
C10orf26 | miRNA target sites |
MPHOSPH9 | miRNA target sites |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs190589680 | chr1:102648619-102648620 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs183460134 | chr1:102648640-102648641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs116837611 | chr1:102648655-102648656 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs544634214 | chr1:102648677-102648678 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs186322033 | chr1:102648691-102648692 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs542529684 | chr1:102648692-102648693 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs114900968 | chr1:102648711-102648712 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs529183861 | chr1:102648722-102648723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs548610370 | chr1:102648726-102648727 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs192031933 | chr1:102648823-102648824 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527910232 | chr1:102648839-102648840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs182965306 | chr1:102649004-102649005 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs115079268 | chr1:102649011-102649012 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs538243514 | chr1:102649012-102649013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs143360026 | chr1:102649028-102649029 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs572660767 | chr1:102649102-102649103 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs576232706 | chr1:102649114-102649115 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs568761318 | chr1:102649120-102649121 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs72989379 | chr1:102649135-102649136 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
20 | rs554590491 | chr1:102649148-102649149 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs535270963 | chr1:102649223-102649224 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
22 | rs187421911 | chr1:102649308-102649309 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
23 | rs191096283 | chr1:102649324-102649325 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
24 | rs540073009 | chr1:102649325-102649326 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
25 | rs147110637 | chr1:102649391-102649392 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
26 | rs576970297 | chr1:102649400-102649401 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
27 | rs544384170 | chr1:102649462-102649463 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
28 | rs562860586 | chr1:102649502-102649503 | Flanking Active TSS | n/a | n/a | Overlapped CNVs | n/a |
29 | rs11579595 | chr1:102649588-102649589 | Flanking Active TSS | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
30 | rs575012564 | chr1:102649630-102649631 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs542480361 | chr1:102649640-102649641 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs542658202 | chr1:102649695-102649696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs560794880 | chr1:102649774-102649775 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs527869668 | chr1:102649782-102649783 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs72989381 | chr1:102649823-102649824 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs183251523 | chr1:102649905-102649906 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs572984342 | chr1:102649906-102649907 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs187881650 | chr1:102649908-102649909 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs72989382 | chr1:102649922-102649923 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs376387484 | chr1:102649932-102649933 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs375055110 | chr1:102650083-102650084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs535899999 | chr1:102650099-102650100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs554431225 | chr1:102650109-102650110 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs566471836 | chr1:102650145-102650146 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs540284929 | chr1:102650164-102650165 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs80251586 | chr1:102650210-102650211 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs558285328 | chr1:102650223-102650224 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs576975502 | chr1:102650248-102650249 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs192275565 | chr1:102650349-102650350 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs556403217 | chr1:102650357-102650358 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Breast cancer | 21785460 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16608533 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 22429812 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Glioblastoma multiforme | 21922591 | CNVD |
Autism | 17483303 | CNVD |
Intestinal disease | 21956041 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Schizophrenia | 17879154 | CNVD |
Mental retardation | 17124404 | CNVD |
Intestinal disease | 17828263 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Immune disease | 21076436 | CNVD |
Immune disease | 21042300 | CNVD |
Lung cancer | 17086460 | CNVD |
Gastric cancer | 16891809 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:102648600-102649200 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr1:102649200-102649600 | Flanking Active TSS | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr1:102649600-102651400 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
4 | chr1:102666400-102666800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr1:102666400-102666800 | ZNF genes & repeats | Breast Myoepithelial Primary Cells | Breast |
6 | chr1:102667000-102667400 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
7 | chr1:102676600-102677000 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
8 | chr1:102676800-102677600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr1:102698600-102699000 | Enhancers | Dnd41 | blood |
10 | chr1:102699000-102700400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
11 | chr1:102699600-102700800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
12 | chr1:102700400-102700800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
13 | chr1:102700400-102701000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
14 | chr1:102707200-102707800 | Enhancers | Cortex derived primary cultured neurospheres | brain |
15 | chr1:102707200-102707800 | Enhancers | GM12878-XiMat | blood |
16 | chr1:102718000-102719200 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
17 | chr1:102718400-102719400 | Enhancers | Fetal Heart | heart |
18 | chr1:102728400-102728800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
19 | chr1:102749400-102749800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
20 | chr1:102749800-102750800 | Genic enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
21 | chr1:102750800-102751400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
22 | chr1:102778200-102778600 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
23 | chr1:102791800-102792000 | Enhancers | Pancreas | Pancrea |
24 | chr1:102818200-102818800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
25 | chr1:102828200-102828600 | Enhancers | HUVEC | blood vessel |
26 | chr1:102845800-102846200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |