Variant report
Variant | esv3493235 |
---|---|
Chromosome Location | chr2:78386346-78408462 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
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 | rs557940557 | chr2:78386358-78386359 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs190241202 | chr2:78389002-78389003 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs554817922 | chr2:78389009-78389010 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs574839538 | chr2:78389017-78389018 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs543597680 | chr2:78389024-78389025 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs562451201 | chr2:78389081-78389082 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs148761968 | chr2:78389086-78389087 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs576043653 | chr2:78389116-78389117 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs556758909 | chr2:78389133-78389134 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs544801354 | chr2:78389152-78389153 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs181693513 | chr2:78389159-78389160 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs527277904 | chr2:78389173-78389174 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs541055697 | chr2:78389179-78389180 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs186044868 | chr2:78389240-78389241 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs530057976 | chr2:78389244-78389245 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs375164191 | chr2:78389265-78389266 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs191106236 | chr2:78389321-78389322 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs569772952 | chr2:78389327-78389328 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs372261093 | chr2:78389328-78389329 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs547800885 | chr2:78389334-78389335 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs532604397 | chr2:78389364-78389365 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs183741318 | chr2:78389368-78389369 | Active TSS Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs373019792 | chr2:78389401-78389402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs377574002 | chr2:78389424-78389425 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs566191268 | chr2:78389442-78389443 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs533764708 | chr2:78389517-78389518 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs187879456 | chr2:78389564-78389565 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs78455624 | chr2:78389589-78389590 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs534691674 | chr2:78389602-78389603 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs548216940 | chr2:78389614-78389615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs117619134 | chr2:78389620-78389621 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs73616618 | chr2:78389642-78389643 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs116368236 | chr2:78389659-78389660 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs557505391 | chr2:78389664-78389665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs75889921 | chr2:78389673-78389674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs540061884 | chr2:78389674-78389675 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs79317399 | chr2:78389686-78389687 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs373749335 | chr2:78389715-78389716 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs190627107 | chr2:78389741-78389742 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs541018575 | chr2:78389767-78389768 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs527275494 | chr2:78389842-78389843 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs552096057 | chr2:78389860-78389861 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs543368069 | chr2:78389878-78389879 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs559014221 | chr2:78389886-78389887 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs538648493 | chr2:78389892-78389893 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs563632930 | chr2:78389899-78389900 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs532184657 | chr2:78389901-78389902 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs562659184 | chr2:78390045-78390046 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs142132961 | chr2:78390076-78390077 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs182809107 | chr2:78390084-78390085 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
Prostate cancer | 18632612 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Autism | 22495311 | CNVD |
Autism | 18522746 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Lung cancer | 18438408 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Mental retardation | 17124404 | CNVD |
Basal cell lymphoma | 19029149 | CNVD |
Diffuse large b-cell lymphoma | 19029149 | CNVD |
Cancer | 17440070 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Attention deficit hyperactivity disorder | 21324949 | CNVD |
Breast cancer | 16272173 | CNVD |
Epilepsy | 22083797 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:78385600-78386400 | Enhancers | Brain Hippocampus Middle | brain |
2 | chr2:78389000-78389400 | Active TSS | Hela-S3 | cervix |
3 | chr2:78389000-78390200 | Enhancers | HepG2 | liver |
4 | chr2:78402600-78403400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
5 | chr2:78402800-78403200 | Enhancers | HUES64 Cell Line | embryonic stem cell |
6 | chr2:78402800-78403200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
7 | chr2:78403200-78408200 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
8 | chr2:78405000-78405200 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
9 | chr2:78408000-78408600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
10 | chr2:78408000-78408600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
11 | chr2:78408200-78408600 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
12 | chr2:78408200-78408600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
13 | chr2:78408200-78408600 | Enhancers | HUES6 Cell Line | embryonic stem cell |
14 | chr2:78408200-78408600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |