Variant report
Variant | nsv871555 |
---|---|
Chromosome Location | chr1:102255522-102304094 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:245)
- CpG islands (count:61)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:102263519-102263569 | K562 | blood: | n/a |
2 | chr1:102263519-102263569 | HCPEpiC | choroid plexus: | n/a |
3 | chr1:102263519-102263569 | MCF10A-Er-Src | breast: | n/a |
4 | chr1:102263519-102263569 | Hepatocyte | liver: | n/a |
5 | chr1:102263519-102263569 | RPTEC | kidney: | n/a |
6 | chr1:102263519-102263569 | PrEC | prostate: | n/a |
7 | chr1:102263519-102263569 | NHBE | bronchial: | n/a |
8 | chr1:102263519-102263569 | SK-N-SH_RA | brain: | n/a |
9 | chr1:102263519-102263569 | PANC-1 | pancreas: | n/a |
10 | chr1:102263519-102263569 | MCF-7 | breast: | n/a |
11 | chr1:102263519-102263569 | SKMC | muscle: | n/a |
12 | chr1:102263519-102263569 | HEK293 | kidney: | embryo |
13 | chr1:102263519-102263569 | HCT-116 | colon: | n/a |
14 | chr1:102263519-102263569 | PFSK-1 | brain: | n/a |
15 | chr1:102263519-102263569 | GM12878 | blood: | n/a |
16 | chr1:102263519-102263569 | NH-A | brain: | n/a |
17 | chr1:102263519-102263569 | HepG2 | liver: | n/a |
18 | chr1:102263519-102263569 | GM19239 | blood: | n/a |
19 | chr1:102263519-102263569 | AG09309 | skin: | n/a |
20 | chr1:102263519-102263569 | NHDF-neo | bronchial: | n/a |
21 | chr1:102263519-102263569 | HAEpiC | amniotic membrane: | n/a |
22 | chr1:102263519-102263569 | NT2-D1 | testis: | n/a |
23 | chr1:102263519-102263569 | ECC-1 | luminal epithelium: | n/a |
24 | chr1:102263519-102263569 | Hela-S3 | cervix: | n/a |
25 | chr1:102263519-102263569 | T-47D | breast: | n/a |
26 | chr1:102263519-102263569 | HL-60 | blood: | n/a |
27 | chr1:102263519-102263569 | AG09319 | gingival: | n/a |
28 | chr1:102263519-102263569 | BE2_C | brain: | n/a |
29 | chr1:102263519-102263569 | ProgFib | skin: | n/a |
30 | chr1:102263519-102263569 | AoSMC | blood vessel: | n/a |
31 | chr1:102263519-102263569 | AG04450 | lung: | fetal |
32 | chr1:102263519-102263569 | HIPEpiC | eye: | n/a |
33 | chr1:102263519-102263569 | SK-N-MC | brain: | n/a |
34 | chr1:102263519-102263569 | BJ | skin: | n/a |
35 | chr1:102263519-102263569 | HNPCEpiC | eye: | n/a |
36 | chr1:102263519-102263569 | HPAEpiC | pulmonary alveolar: | n/a |
37 | chr1:102263519-102263569 | SAEC | small airway: | n/a |
38 | chr1:102263519-102263569 | HRCEpiC | kidney: | n/a |
39 | chr1:102263519-102263569 | AG04449 | skin: | fetal |
40 | chr1:102263519-102263569 | HCM | heart: | n/a |
41 | chr1:102263519-102263569 | HUVEC | blood vessel: | n/a |
42 | chr1:102263519-102263569 | A549 | lung: | n/a |
43 | chr1:102263519-102263569 | IMR90 | lung: | fetal |
44 | chr1:102263519-102263569 | NB4 | blood: | n/a |
45 | chr1:102263519-102263569 | U87 | brain: | n/a |
46 | chr1:102263519-102263569 | CMK | blood: | n/a |
47 | chr1:102263519-102263569 | GM06990 | blood: | n/a |
48 | chr1:102263519-102263569 | HEEpiC | esophagus: | n/a |
49 | chr1:102263519-102263569 | HRPEpiC | eye: | n/a |
50 | chr1:102263519-102263569 | Jurkat | blood: | n/a |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:102264508..102267132-chr1:102269526..102271581,2 | K562 | blood: | |
2 | chr1:102118967..102119744-chr1:102285327..102286064,2 | MCF-7 | breast: | |
3 | chr1:102264508..102267132-chr1:102269526..102271581,2 | K562 | blood: | |
4 | chr1:102285335..102286320-chr1:102656866..102657699,4 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
OLFM3 | TF binding region |
ENSG00000183298 | TF binding region |
OLFM3 | CpG island |
ENSG00000183298 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs11801608 | chr1:102255522-102255523 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs558972074 | chr1:102255554-102255555 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs376145360 | chr1:102255570-102255571 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs56360124 | chr1:102255571-102255572 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs562987105 | chr1:102255602-102255603 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs565359663 | chr1:102255605-102255606 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs150914479 | chr1:102255606-102255607 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs12117977 | chr1:102255654-102255655 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs191956811 | chr1:102255703-102255704 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs114646760 | chr1:102255727-102255728 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs527956262 | chr1:102255746-102255747 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs56141470 | chr1:102255776-102255777 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
13 | rs183133243 | chr1:102255809-102255810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs951505 | chr1:102255847-102255848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs532153655 | chr1:102255855-102255856 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs116408844 | chr1:102255860-102255861 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs528534889 | chr1:102255889-102255890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs186032722 | chr1:102255899-102255900 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs548379248 | chr1:102256024-102256025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs191192597 | chr1:102256059-102256060 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs183354833 | chr1:102256060-102256061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs559034420 | chr1:102256075-102256076 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs550869664 | chr1:102256078-102256079 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs187906310 | chr1:102256082-102256083 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs555932857 | chr1:102256085-102256086 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs143885254 | chr1:102256121-102256122 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs113489207 | chr1:102256143-102256144 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs556627878 | chr1:102256186-102256187 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs35561242 | chr1:102256190-102256191 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs574809167 | chr1:102256238-102256239 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs551340569 | chr1:102256253-102256254 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs75843254 | chr1:102256272-102256273 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs560297455 | chr1:102256283-102256284 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs67430268 | chr1:102256330-102256331 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs564390276 | chr1:102256348-102256349 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs144868223 | chr1:102256358-102256359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs112577944 | chr1:102256372-102256373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs557985474 | chr1:102256402-102256403 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs75697494 | chr1:102256415-102256416 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs78947258 | chr1:102256416-102256417 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs529735221 | chr1:102256459-102256460 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs375139410 | chr1:102256521-102256522 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs114198330 | chr1:102256605-102256606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs566664656 | chr1:102256613-102256614 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs78860503 | chr1:102256631-102256632 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs140774787 | chr1:102256656-102256657 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs72729621 | chr1:102256664-102256665 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs538260034 | chr1:102256697-102256698 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs192195624 | chr1:102256707-102256708 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs183357025 | chr1:102256815-102256816 | Weak transcription | 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 |
low-grade B-cell lymphoma tumor | 18367492 | 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 | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:102255400-102255600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr1:102255600-102258200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr1:102258000-102258600 | Enhancers | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
4 | chr1:102258200-102258600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
5 | chr1:102258200-102258600 | Enhancers | Cortex derived primary cultured neurospheres | brain |
6 | chr1:102258600-102264000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
7 | chr1:102263200-102263600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
8 | chr1:102263400-102264200 | Enhancers | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
9 | chr1:102263400-102264800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
10 | chr1:102264000-102264400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
11 | chr1:102264000-102264400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
12 | chr1:102264800-102265200 | Enhancers | Fetal Stomach | stomach |
13 | chr1:102268400-102311200 | Weak transcription | Fetal Intestine Large | intestine |
14 | chr1:102274000-102277000 | Enhancers | Dnd41 | blood |
15 | chr1:102275000-102275600 | Enhancers | Fetal Stomach | stomach |
16 | chr1:102277000-102278000 | Weak transcription | Dnd41 | blood |
17 | chr1:102278000-102278200 | Enhancers | Dnd41 | blood |
18 | chr1:102282400-102283600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
19 | chr1:102288200-102309200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
20 | chr1:102294400-102311200 | Weak transcription | Fetal Intestine Small | intestine |
21 | chr1:102298800-102299200 | Enhancers | HUVEC | blood vessel |