Variant report
Variant | esv3425240 |
---|---|
Chromosome Location | chr2:180301857-180303955 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:180302328..180304354-chr2:180312271..180313861,2 | MCF-7 | breast: |
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 | rs191991901 | chr2:180301914-180301915 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs12614092 | chr2:180301932-180301933 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs140668726 | chr2:180301972-180301973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs375859163 | chr2:180301979-180301980 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs547214226 | chr2:180302004-180302005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs13007975 | chr2:180302025-180302026 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs537091839 | chr2:180302053-180302054 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs35089462 | chr2:180302126-180302127 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
9 | rs184106671 | chr2:180302162-180302163 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs147321571 | chr2:180302224-180302225 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs188401538 | chr2:180302225-180302226 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs180925435 | chr2:180302257-180302258 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574856712 | chr2:180302309-180302310 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs533920723 | chr2:180302351-180302352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs547819486 | chr2:180302360-180302361 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs570604911 | chr2:180302429-180302430 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs75428816 | chr2:180302471-180302472 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs556244516 | chr2:180302505-180302506 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs575065157 | chr2:180302506-180302507 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs538057050 | chr2:180302535-180302536 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs554549598 | chr2:180302561-180302562 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs139365168 | chr2:180302599-180302600 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs184121085 | chr2:180302605-180302606 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs370938719 | chr2:180302732-180302733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs374251964 | chr2:180302733-180302734 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs71029807 | chr2:180302736-180302737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs28361518 | chr2:180302737-180302738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs190670884 | chr2:180302749-180302750 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs71029808 | chr2:180302751-180302752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs200794891 | chr2:180302769-180302770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs535930990 | chr2:180302771-180302772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs149911955 | chr2:180302772-180302773 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs143857048 | chr2:180302773-180302774 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs538100889 | chr2:180302774-180302775 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540538161 | chr2:180302784-180302785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs541848095 | chr2:180302795-180302796 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs576916598 | chr2:180302797-180302798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs550457162 | chr2:180302809-180302810 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs545866647 | chr2:180302836-180302837 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs546944116 | chr2:180302838-180302839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs562587866 | chr2:180302846-180302847 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs549452225 | chr2:180302850-180302851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs12990819 | chr2:180302861-180302862 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs12467818 | chr2:180302902-180302903 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs573100863 | chr2:180302921-180302922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs78503546 | chr2:180302998-180302999 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs182293634 | chr2:180303050-180303051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs187380200 | chr2:180303099-180303100 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543317581 | chr2:180303142-180303143 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs67034434 | chr2:180303158-180303159 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Ependymoma | 16718352 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 18522746 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Breast cancer | 16272173 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Autism | 16446308 | CNVD |
Autism | 19401682 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Lung cancer | 18438408 | CNVD |
Glioblastoma | 21080181 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Prostate cancer | 18632612 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 18923514 | CNVD |
Schizophrenia | 22241247 | CNVD |
Mental retardation | 21062444 | CNVD |
Facial dysmorphism | 20548289 | CNVD |
Mental retardation | 20548289 | CNVD |
Schizophrenia | 19348701 | CNVD |
Muscular dystrophy | 17160897 | CNVD |
Cardiomyopathy | 17576883 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:180293800-180307800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr2:180294200-180306600 | Weak transcription | Liver | Liver |
3 | chr2:180294200-180307400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr2:180294600-180305600 | Weak transcription | H1 Cell Line | embryonic stem cell |
5 | chr2:180299800-180308400 | Weak transcription | H9 Cell Line | embryonic stem cell |
6 | chr2:180300000-180305800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
7 | chr2:180300200-180305800 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
8 | chr2:180300400-180305600 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
9 | chr2:180300400-180306000 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
10 | chr2:180303400-180303800 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
11 | chr2:180303800-180307800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |