Variant report
Variant | nsv528781 |
---|---|
Chromosome Location | chr8:6811559-6822785 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:255)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
(count:4 , 50 per page) page:
1
(count:2 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA1-2 | chr8:6816811-6816923 | NONHSAT124801 |
2 | lnc-DEFA1-2 | chr8:6817512-6817683 | NONHSAT124801 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA9P | TF binding region |
DEFA8P | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs2741658 | chr8:6811559-6811560 | Weak transcription Bivalent Enhancer Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs111728365 | chr8:6811594-6811595 | Weak transcription Bivalent Enhancer Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs577309149 | chr8:6811611-6811612 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs187301605 | chr8:6811614-6811615 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs565105597 | chr8:6811625-6811626 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs192893098 | chr8:6811628-6811629 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs185348658 | chr8:6811648-6811649 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs147150204 | chr8:6811661-6811662 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs529662771 | chr8:6811673-6811674 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs546631048 | chr8:6811684-6811685 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs190047871 | chr8:6811685-6811686 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs548934391 | chr8:6811734-6811735 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs552329067 | chr8:6811749-6811750 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs193105110 | chr8:6811759-6811760 | Weak transcription Bivalent Enhancer Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs184564979 | chr8:6811803-6811804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs140183914 | chr8:6811812-6811813 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs568073564 | chr8:6811822-6811823 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs188228603 | chr8:6811837-6811838 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs145691764 | chr8:6811860-6811861 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs561547724 | chr8:6811867-6811868 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs577245607 | chr8:6811893-6811894 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs375808943 | chr8:6811895-6811896 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs539958510 | chr8:6811904-6811905 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558752904 | chr8:6811926-6811927 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs575534736 | chr8:6811993-6811994 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs147715309 | chr8:6812022-6812023 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs554910088 | chr8:6812078-6812079 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs370131488 | chr8:6812081-6812082 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs562320685 | chr8:6812085-6812086 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs560120209 | chr8:6812100-6812101 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs2702850 | chr8:6812122-6812123 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
32 | rs545508668 | chr8:6812132-6812133 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs562715039 | chr8:6812160-6812161 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs531790727 | chr8:6812179-6812180 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs117997251 | chr8:6812180-6812181 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs568657876 | chr8:6812181-6812182 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs2741657 | chr8:6812198-6812199 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs2741656 | chr8:6812204-6812205 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs547461101 | chr8:6812205-6812206 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs570842771 | chr8:6812228-6812229 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs2741655 | chr8:6812233-6812234 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs539521634 | chr8:6812238-6812239 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs2472562 | chr8:6812249-6812250 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
44 | rs546825061 | chr8:6812276-6812277 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs2741654 | chr8:6812283-6812284 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs569034871 | chr8:6812296-6812297 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs538026791 | chr8:6812339-6812340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs71535993 | chr8:6812370-6812371 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs62488522 | chr8:6812378-6812379 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs77020315 | chr8:6812380-6812381 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Ovarian clear cell carcinoma | 21343371 | CNVD |
abnormal development | 18461090 | CNVD |
Crohn''s disease | 19220326 | CNVD |
Psoriasis | 19220326 | CNVD |
Prostate cancer | 21965145 | CNVD |
Prostate cancer | 18515986 | CNVD |
Chronic obstructive pulmonary disease | 20378733 | CNVD |
Autism | 18414403 | CNVD |
Cancer | 21183584 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 17603634 | CNVD |
Myeloproliferative neoplasm | 20015882 | CNVD |
Ovarian cancer | 20844748 | CNVD |
Cervical cancer | 17311676 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Non-syndromic sensorineural hearing loss | 20606397 | CNVD |
Schizophrenia | 20877625 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Follicular lymphoma | 17170743 | CNVD |
Breast cancer | 17001317 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Heart disease | 21282601 | CNVD |
Prostate cancer | 16573809 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Salivary gland tumor | 18059337 | CNVD |
Breast cancer | 17133270 | CNVD |
Melanoma | 18172304 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Chronic lymphocytic leukemia | 18922857 | CNVD |
Breast cancer | 17393978 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Cancer | 21637783 | CNVD |
Breast cancer | 20837533 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 22429812 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Breast cancer | 21264507 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Oral cancer | 21386901 | CNVD |
Prostate cancer | 21088497 | CNVD |
Breast cancer | 20940404 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Embryonal rhabdomyosarcoma | 16790082 | CNVD |
Gastric cancer | 17167181 | CNVD |
Prostate cancer | 16705090 | CNVD |
8p-syndrome | 17576883 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Lung adenocarcinoma | 19525976 | CNVD |
Lung cancer | 19525976 | CNVD |
Prostate cancer | 17245344 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Cancer | 16751803 | CNVD |
Wilms tumour | 21544195 | CNVD |
Gastric cancer | 17908304 | CNVD |
Autism | 19415332 | CNVD |
Malaria | 21533027 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Breast cancer | 21245420 | CNVD |
Acute lymphoblastic leukemia | 21248843 | CNVD |
Breast cancer | 21785460 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 21509527 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Epilepsy | 22083797 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Congenital diaphragmatic hernia | 21064195 | CNVD |
Autism | 22495311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Breast cancer | 16608533 | CNVD |
Seminomas | 18059402 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Breast cancer | 21364760 | CNVD |
Lung squamous cell carcinoma | 22363434 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Gastric cancer | 18160780 | CNVD |
Breast cancer | 21990379 | CNVD |
Psoriasis | 20403174 | CNVD |
Psoriasis | 20663923 | CNVD |
Crohn''s disease | 16909382 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Crohn''s disease | 20877625 | CNVD |
Inflammatory disorder | 20877625 | CNVD |
Cardiac defect | 21933911 | CNVD |
Psoriasis | 18059266 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Psoriasis | 20877625 | CNVD |
Mental retardation | 17847001 | CNVD |
Prostate cancer | 17217626 | CNVD |
Schizophrenia | 21399695 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Colorectal cancer | 19455253 | CNVD |
Psoriasis | 18848619 | CNVD |
Squamous cell cancer | 19047905 | CNVD |
Colorectal cancer | 17229543 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Bladder cancer | 21909424 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Cognitive impairment | 21505072 | CNVD |
Breast cancer | 17142309 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:6804400-6812400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
3 | chr8:6806400-6813000 | Enhancers | Fetal Thymus | thymus |
4 | chr8:6808800-6812200 | Enhancers | Thymus | Thymus |
5 | chr8:6810800-6811800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
6 | chr8:6811000-6818000 | Enhancers | Dnd41 | blood |
7 | chr8:6811200-6811800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
8 | chr8:6812200-6813000 | Weak transcription | Thymus | Thymus |
9 | chr8:6812400-6814400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
10 | chr8:6813000-6813800 | Enhancers | Thymus | Thymus |
11 | chr8:6813000-6814000 | Weak transcription | Fetal Thymus | thymus |
12 | chr8:6813800-6815000 | Weak transcription | Thymus | Thymus |
13 | chr8:6814000-6814200 | Enhancers | Fetal Thymus | thymus |
14 | chr8:6814200-6814600 | Weak transcription | Fetal Thymus | thymus |
15 | chr8:6814400-6816200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
16 | chr8:6814600-6817000 | Enhancers | Fetal Thymus | thymus |
17 | chr8:6815000-6815800 | Enhancers | Thymus | Thymus |
18 | chr8:6816200-6817400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
19 | chr8:6817000-6817600 | Weak transcription | Fetal Thymus | thymus |
20 | chr8:6817400-6818800 | Enhancers | Primary neutrophils fromperipheralblood | blood |
21 | chr8:6817600-6817800 | Enhancers | Fetal Thymus | thymus |
22 | chr8:6817600-6817800 | Flanking Active TSS | Lung | lung |
23 | chr8:6817800-6820600 | Weak transcription | Fetal Thymus | thymus |
24 | chr8:6818000-6820400 | Weak transcription | Dnd41 | blood |
25 | chr8:6818800-6822800 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
26 | chr8:6820400-6821800 | Enhancers | Dnd41 | blood |
27 | chr8:6820600-6821600 | Enhancers | Fetal Thymus | thymus |
28 | chr8:6821400-6821800 | Enhancers | Thymus | Thymus |