Variant report
Variant | esv3443215 |
---|---|
Chromosome Location | chr2:78697694-78699842 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:4 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:78696080..78698215-chr2:78700355..78703022,2 | K562 | blood: | |
2 | chr2:78695424..78698348-chr2:78698438..78701119,2 | K562 | blood: | |
3 | chr2:78694367..78697060-chr2:78697829..78699693,2 | MCF-7 | breast: | |
4 | chr2:78695424..78698348-chr2:78698438..78701119,2 | K562 | blood: |
No data |
No data |
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs574806477 | chr2:78697723-78697724 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs75007257 | chr2:78697748-78697749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs377107141 | chr2:78697752-78697753 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs368361895 | chr2:78697779-78697780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs115691276 | chr2:78697803-78697804 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs559453453 | chr2:78697807-78697808 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs1568062 | chr2:78697827-78697828 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs541840838 | chr2:78697840-78697841 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs561710334 | chr2:78697847-78697848 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs186346110 | chr2:78697872-78697873 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs376002962 | chr2:78697874-78697875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs551208854 | chr2:78697970-78697971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs138544791 | chr2:78697994-78697995 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs149268186 | chr2:78697996-78697997 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs371425953 | chr2:78698024-78698025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs13011787 | chr2:78698062-78698063 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs565809724 | chr2:78698064-78698065 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs1040179 | chr2:78698089-78698090 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs574566021 | chr2:78698101-78698102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs3033904 | chr2:78698127-78698128 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs5832332 | chr2:78698128-78698129 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs548223768 | chr2:78698153-78698154 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs568022342 | chr2:78698170-78698171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs536951785 | chr2:78698173-78698174 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560220795 | chr2:78698185-78698186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs557272312 | chr2:78698221-78698222 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs570648383 | chr2:78698237-78698238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs370099635 | chr2:78698242-78698243 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs527767134 | chr2:78698326-78698327 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs539645949 | chr2:78698358-78698359 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs190070201 | chr2:78698372-78698373 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs573013527 | chr2:78698379-78698380 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs6739457 | chr2:78698383-78698384 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
34 | rs13386134 | chr2:78698392-78698393 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs575640409 | chr2:78698401-78698402 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs111659784 | chr2:78698427-78698428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs181651127 | chr2:78698429-78698430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs564835994 | chr2:78698446-78698447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs2009237 | chr2:78698448-78698449 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs77544096 | chr2:78698450-78698451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs201221722 | chr2:78698461-78698462 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs140306066 | chr2:78698464-78698465 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs539803000 | chr2:78698465-78698466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs528207782 | chr2:78698485-78698486 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs143470411 | chr2:78698488-78698489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs568160150 | chr2:78698508-78698509 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs530571002 | chr2:78698536-78698537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs568691997 | chr2:78698556-78698557 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201071273 | chr2:78698584-78698585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs202118358 | chr2:78698602-78698603 | Weak transcription | 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 |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:78683400-78742200 | Weak transcription | HepG2 | liver |