Variant report
Variant | esv3528359 |
---|---|
Chromosome Location | chr8:10215929-10216572 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- 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 | rs578054087 | chr8:10215937-10215938 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs543979149 | chr8:10215970-10215971 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs190262225 | chr8:10215971-10215972 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs371047086 | chr8:10215985-10215986 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs529332432 | chr8:10215998-10215999 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs182188940 | chr8:10216024-10216025 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs559256751 | chr8:10216041-10216042 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs528404993 | chr8:10216043-10216044 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs551248253 | chr8:10216060-10216061 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs539912816 | chr8:10216073-10216074 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs57014679 | chr8:10216090-10216091 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs59106668 | chr8:10216114-10216115 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs187691254 | chr8:10216126-10216127 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs536647828 | chr8:10216134-10216135 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs550302793 | chr8:10216144-10216145 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs35681280 | chr8:10216178-10216179 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs36080468 | chr8:10216185-10216186 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs371724100 | chr8:10216195-10216196 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs570603426 | chr8:10216216-10216217 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs535938338 | chr8:10216260-10216261 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs372656731 | chr8:10216263-10216264 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs572530204 | chr8:10216264-10216265 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs535366033 | chr8:10216290-10216291 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs558484231 | chr8:10216304-10216305 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs61656398 | chr8:10216313-10216314 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs543845348 | chr8:10216323-10216324 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs563491360 | chr8:10216338-10216339 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs369652281 | chr8:10216349-10216350 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs542722363 | chr8:10216361-10216362 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs559534815 | chr8:10216371-10216372 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs528249944 | chr8:10216382-10216383 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs115178467 | chr8:10216390-10216391 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs368361000 | chr8:10216393-10216394 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs564829549 | chr8:10216394-10216395 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs374128796 | chr8:10216418-10216419 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs377687021 | chr8:10216419-10216420 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs567115913 | chr8:10216426-10216427 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190816110 | chr8:10216434-10216435 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs546354593 | chr8:10216437-10216438 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs566307931 | chr8:10216455-10216456 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs535219150 | chr8:10216466-10216467 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs183918701 | chr8:10216474-10216475 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs374700290 | chr8:10216493-10216494 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs377218977 | chr8:10216506-10216507 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs537715347 | chr8:10216509-10216510 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs557343396 | chr8:10216515-10216516 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs79652897 | chr8:10216526-10216527 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs376435796 | chr8:10216532-10216533 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs543136866 | chr8:10216570-10216571 | Weak transcription ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Acute myeloid leukemia | 21251322 | 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 |
Lung squamous cell carcinoma | 22363434 | 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 |
Myxofibrosarcoma | 16751306 | CNVD |
Immune disease | 21572526 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Kallmann Syndrome 2 | 22470819 | CNVD |
Developmental disorder | 20461109 | CNVD |
abnormal development | 18461090 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
Epilepsy | 20502679 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:10192600-10282400 | Weak transcription | Gastric | stomach |
2 | chr8:10193000-10235000 | Weak transcription | Pancreas | Pancrea |
3 | chr8:10193600-10220400 | Weak transcription | Brain Cingulate Gyrus | brain |
4 | chr8:10196800-10228000 | Weak transcription | Liver | Liver |
5 | chr8:10201800-10221800 | Weak transcription | H9 Cell Line | embryonic stem cell |
6 | chr8:10204000-10219800 | Weak transcription | Stomach Smooth Muscle | stomach |
7 | chr8:10204400-10221800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
8 | chr8:10206200-10222800 | Weak transcription | Aorta | Aorta |
9 | chr8:10208400-10218200 | Weak transcription | Primary neutrophils fromperipheralblood | blood |
10 | chr8:10208800-10220400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
11 | chr8:10209400-10220600 | Weak transcription | Brain Angular Gyrus | brain |
12 | chr8:10210600-10218400 | Weak transcription | Left Ventricle | heart |
13 | chr8:10210600-10220200 | Weak transcription | Brain Inferior Temporal Lobe | brain |
14 | chr8:10211200-10220000 | Weak transcription | Right Atrium | heart |
15 | chr8:10213400-10217200 | Weak transcription | Lung | lung |
16 | chr8:10213600-10217200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
17 | chr8:10214400-10219400 | Weak transcription | Spleen | Spleen |
18 | chr8:10214600-10217400 | Weak transcription | Fetal Brain Female | brain |
19 | chr8:10214800-10219000 | Weak transcription | Primary hematopoietic stem cells | blood |
20 | chr8:10215000-10216400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
21 | chr8:10215200-10218400 | Weak transcription | Primary T killer memory cells from peripheral blood | blood |
22 | chr8:10215400-10216800 | Weak transcription | Primary T cells from cord blood | blood |
23 | chr8:10215400-10217800 | Weak transcription | Placenta Amnion | Placenta Amnion |
24 | chr8:10215600-10216000 | Enhancers | Fetal Brain Male | brain |
25 | chr8:10215800-10218800 | Weak transcription | Primary T helper cells PMA-I stimulated | -- |
26 | chr8:10216000-10217600 | Weak transcription | Fetal Brain Male | brain |
27 | chr8:10216200-10220600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
28 | chr8:10216400-10217400 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |