Variant report
Variant | esv3379906 |
---|---|
Chromosome Location | chr3:86433362-86435260 |
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)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs530825263 | chr3:86433370-86433371 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs143212197 | chr3:86433373-86433374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs568391715 | chr3:86433400-86433401 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs189305107 | chr3:86433430-86433431 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs547605330 | chr3:86433444-86433445 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs148381615 | chr3:86433457-86433458 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs539512629 | chr3:86433470-86433471 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs554239530 | chr3:86433477-86433478 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551516155 | chr3:86433488-86433489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs181042558 | chr3:86433503-86433504 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs537045346 | chr3:86433543-86433544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs555780425 | chr3:86433550-86433551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs574314721 | chr3:86433555-86433556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs371211187 | chr3:86433562-86433563 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs185983182 | chr3:86433564-86433565 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs577308957 | chr3:86433567-86433568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs553506876 | chr3:86433607-86433608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs578123749 | chr3:86433620-86433621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs545061208 | chr3:86433676-86433677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs563447066 | chr3:86433714-86433715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs190836763 | chr3:86433730-86433731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs575231335 | chr3:86433737-86433738 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs546423182 | chr3:86433769-86433770 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs556093036 | chr3:86433784-86433785 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs138498842 | chr3:86433792-86433793 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs143990391 | chr3:86433844-86433845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs73844203 | chr3:86433893-86433894 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs547396854 | chr3:86433965-86433966 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs529195827 | chr3:86434001-86434002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138975206 | chr3:86434003-86434004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569120189 | chr3:86434004-86434005 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs201760592 | chr3:86434019-86434020 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs551447389 | chr3:86434024-86434025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs72615739 | chr3:86434027-86434028 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs201015896 | chr3:86434029-86434030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs561868492 | chr3:86434035-86434036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs75867001 | chr3:86434043-86434044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs183094484 | chr3:86434050-86434051 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs540913635 | chr3:86434054-86434055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs531714699 | chr3:86434056-86434057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs7431010 | chr3:86434104-86434105 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs71976530 | chr3:86434105-86434106 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs202037227 | chr3:86434108-86434109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs6549097 | chr3:86434112-86434113 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs7433106 | chr3:86434118-86434119 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs7431013 | chr3:86434120-86434121 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs185566936 | chr3:86434129-86434130 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs190768794 | chr3:86434130-86434131 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs201598794 | chr3:86434144-86434145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs368508275 | chr3:86434145-86434146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Melanoma | 18172304 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Insulin resistance | 16721378 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Oral cancer | 19627613 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Epithelial cancer | 22065749 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Liposarcoma | 21253554 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Pancreatic endocrine tumor | 20981439 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oral cancer | 21386901 | CNVD |
Cutaneous squamous cell carcinomas | 19131950 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Breast cancer | 17603634 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Cancer | 20164919 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Wilms tumour | 21544195 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Mental retardation | 17124404 | CNVD |
Esophageal squamous carcinoma | 17470683 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
craniofacial dysmorphism | 21918468 | CNVD |
Cancer | 20164920 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:86430600-86434800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
2 | chr3:86431000-86437400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr3:86431200-86434600 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
4 | chr3:86431200-86434800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
5 | chr3:86431400-86437800 | Weak transcription | ES-WA7 Cell Line | embryonic stem cell |
6 | chr3:86431600-86434400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
7 | chr3:86431800-86435000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
8 | chr3:86431800-86435200 | Weak transcription | H1 Cell Line | embryonic stem cell |
9 | chr3:86431800-86435600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
10 | chr3:86434400-86436000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
11 | chr3:86434600-86436000 | Enhancers | HUES64 Cell Line | embryonic stem cell |
12 | chr3:86434800-86435800 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
13 | chr3:86434800-86435800 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
14 | chr3:86434800-86437000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
15 | chr3:86435000-86436000 | Enhancers | HUES6 Cell Line | embryonic stem cell |
16 | chr3:86435200-86435400 | Enhancers | H1 Cell Line | embryonic stem cell |