Variant report
Variant | esv32865 |
---|---|
Chromosome Location | chr8:6774404-6775528 |
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 |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:6775337..6778035-chr8:6790742..6792474,2 | K562 | blood: |
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 | rs2738133 | chr8:6774414-6774415 | Weak transcription | n/a | n/a | Overlapped CNVs | mRNA abundance |
2 | rs568522891 | chr8:6774418-6774419 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs183004059 | chr8:6774426-6774427 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs554646642 | chr8:6774427-6774428 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs575186401 | chr8:6774438-6774439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs540010326 | chr8:6774443-6774444 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs188633398 | chr8:6774449-6774450 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs193151990 | chr8:6774462-6774463 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs145708581 | chr8:6774479-6774480 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs185509185 | chr8:6774501-6774502 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs139901354 | chr8:6774529-6774530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs115247193 | chr8:6774536-6774537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs576386014 | chr8:6774544-6774545 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs35200859 | chr8:6774557-6774558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs529021274 | chr8:6774586-6774587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs189215432 | chr8:6774597-6774598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs546363818 | chr8:6774608-6774609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs192580693 | chr8:6774657-6774658 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs2741703 | chr8:6774670-6774671 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
20 | rs531179625 | chr8:6774692-6774693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs551671698 | chr8:6774714-6774715 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs532233232 | chr8:6774719-6774720 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs2741702 | chr8:6774720-6774721 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs534404225 | chr8:6774730-6774731 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184250036 | chr8:6774734-6774735 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs145288329 | chr8:6774743-6774744 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs568125361 | chr8:6774754-6774755 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs2741701 | chr8:6774759-6774760 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
29 | rs371262471 | chr8:6774764-6774765 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188777194 | chr8:6774768-6774769 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs562095464 | chr8:6774771-6774772 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs181196345 | chr8:6774779-6774780 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs186250096 | chr8:6774791-6774792 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs556890054 | chr8:6774815-6774816 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs545908081 | chr8:6774822-6774823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs147633827 | chr8:6774849-6774850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs536379723 | chr8:6774856-6774857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs190226767 | chr8:6774881-6774882 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs142276945 | chr8:6774900-6774901 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs182132858 | chr8:6774931-6774932 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs7825204 | chr8:6774949-6774950 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs551338770 | chr8:6774981-6774982 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs556668897 | chr8:6775003-6775004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs57222188 | chr8:6775004-6775005 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs545635348 | chr8:6775005-6775006 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs562785138 | chr8:6775029-6775030 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs533576507 | chr8:6775040-6775041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs531534574 | chr8:6775058-6775059 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117393130 | chr8:6775071-6775072 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs75971029 | chr8:6775076-6775077 | Weak transcription | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:6768800-6779400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr8:6771400-6777800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |