Variant report
Variant | esv3353556 |
---|---|
Chromosome Location | chr8:6807241-6815914 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:379)
- 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:
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(count:2 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-DEFA4-1 | chr8:6808248-6808360 | NONHSAT124800 |
2 | lnc-DEFA4-1 | chr8:6808950-6809121 | NONHSAT124800 |
No data |
No data |
Variant related genes | Relation type |
---|---|
DEFA8P | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7016650 | chr8:6807258-6807259 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
2 | rs181226054 | chr8:6807261-6807262 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs143933777 | chr8:6807267-6807268 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs558925065 | chr8:6807268-6807269 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575890389 | chr8:6807269-6807270 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs532780541 | chr8:6807281-6807282 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs554527488 | chr8:6807282-6807283 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs184710682 | chr8:6807289-6807290 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs2978955 | chr8:6807310-6807311 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs540300346 | chr8:6807339-6807340 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs547263474 | chr8:6807342-6807343 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs560214830 | chr8:6807382-6807383 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs532540514 | chr8:6807406-6807407 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs116014007 | chr8:6807416-6807417 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs545186725 | chr8:6807455-6807456 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs375707015 | chr8:6807460-6807461 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs564961407 | chr8:6807462-6807463 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs188883923 | chr8:6807467-6807468 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs2981392 | chr8:6807468-6807469 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs567470691 | chr8:6807497-6807498 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs182427359 | chr8:6807517-6807518 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs567245259 | chr8:6807518-6807519 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs187079309 | chr8:6807523-6807524 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs118161692 | chr8:6807531-6807532 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs148196778 | chr8:6807549-6807550 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs377065615 | chr8:6807550-6807551 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs566561154 | chr8:6807589-6807590 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs114296023 | chr8:6807653-6807654 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs116554109 | chr8:6807659-6807660 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs569698002 | chr8:6807665-6807666 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs569382258 | chr8:6807672-6807673 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs538496450 | chr8:6807703-6807704 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs554864614 | chr8:6807733-6807734 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs574443818 | chr8:6807746-6807747 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs192199617 | chr8:6807750-6807751 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553798138 | chr8:6807803-6807804 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs62488516 | chr8:6807809-6807810 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs138736416 | chr8:6807810-6807811 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs558613893 | chr8:6807830-6807831 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs4840645 | chr8:6807839-6807840 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
41 | rs181020233 | chr8:6807840-6807841 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs149319576 | chr8:6807875-6807876 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs535353277 | chr8:6807876-6807877 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs2738086 | chr8:6807882-6807883 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs574978529 | chr8:6807894-6807895 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs371938748 | chr8:6807899-6807900 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs546613597 | chr8:6807901-6807902 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs138968214 | chr8:6807917-6807918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs34716121 | chr8:6807919-6807920 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs566370430 | chr8:6807930-6807931 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6794600-6829200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:6801600-6808800 | Weak transcription | Spleen | Spleen |
3 | chr8:6804400-6812400 | Enhancers | Primary neutrophils fromperipheralblood | blood |
4 | chr8:6805000-6810200 | Enhancers | Dnd41 | blood |
5 | chr8:6806400-6807600 | Enhancers | Thymus | Thymus |
6 | chr8:6806400-6813000 | Enhancers | Fetal Thymus | thymus |
7 | chr8:6807600-6808800 | Weak transcription | Thymus | Thymus |
8 | chr8:6808800-6812200 | Enhancers | Thymus | Thymus |
9 | chr8:6809200-6809400 | Enhancers | Spleen | Spleen |
10 | chr8:6810200-6811000 | Flanking Active TSS | Dnd41 | blood |
11 | chr8:6810800-6811800 | Bivalent Enhancer | Primary monocytes fromperipheralblood | blood |
12 | chr8:6811000-6818000 | Enhancers | Dnd41 | blood |
13 | chr8:6811200-6811800 | Bivalent Enhancer | Monocytes-CD14+_RO01746 | blood |
14 | chr8:6812200-6813000 | Weak transcription | Thymus | Thymus |
15 | chr8:6812400-6814400 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
16 | chr8:6813000-6813800 | Enhancers | Thymus | Thymus |
17 | chr8:6813000-6814000 | Weak transcription | Fetal Thymus | thymus |
18 | chr8:6813800-6815000 | Weak transcription | Thymus | Thymus |
19 | chr8:6814000-6814200 | Enhancers | Fetal Thymus | thymus |
20 | chr8:6814200-6814600 | Weak transcription | Fetal Thymus | thymus |
21 | chr8:6814400-6816200 | Enhancers | Primary neutrophils fromperipheralblood | blood |
22 | chr8:6814600-6817000 | Enhancers | Fetal Thymus | thymus |
23 | chr8:6815000-6815800 | Enhancers | Thymus | Thymus |