Variant report
Variant | esv12118 |
---|---|
Chromosome Location | chr6:45767599-45769428 |
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)
No data |
No data |
(count:2 , 50 per page) page:
1
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 | rs552871671 | chr6:45767603-45767604 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs571167729 | chr6:45767606-45767607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs538287704 | chr6:45767608-45767609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs183813547 | chr6:45767654-45767655 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs374739145 | chr6:45767705-45767706 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs575324985 | chr6:45767708-45767709 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs150115279 | chr6:45767716-45767717 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs554612015 | chr6:45767727-45767728 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs188356900 | chr6:45767732-45767733 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs12197402 | chr6:45767744-45767745 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs192610463 | chr6:45767753-45767754 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs532847846 | chr6:45767790-45767791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs544667005 | chr6:45767798-45767799 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs4329115 | chr6:45767885-45767886 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
15 | rs146682947 | chr6:45767887-45767888 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs140255577 | chr6:45767906-45767907 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs75227372 | chr6:45767917-45767918 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs184582025 | chr6:45767921-45767922 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs145238914 | chr6:45767922-45767923 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs138492179 | chr6:45767932-45767933 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs149635906 | chr6:45767956-45767957 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs571254817 | chr6:45767989-45767990 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs1375693 | chr6:45768003-45768004 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
24 | rs143374799 | chr6:45768068-45768069 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs576985540 | chr6:45768072-45768073 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs369500190 | chr6:45768117-45768118 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs1375692 | chr6:45768146-45768147 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
28 | rs148355836 | chr6:45768181-45768182 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs141501513 | chr6:45768203-45768204 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs188248491 | chr6:45768214-45768215 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs534437502 | chr6:45768219-45768220 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs559194522 | chr6:45768246-45768247 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs59952063 | chr6:45768249-45768250 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs1375691 | chr6:45768251-45768252 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs113933892 | chr6:45768255-45768256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs139979157 | chr6:45768256-45768257 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs1375690 | chr6:45768268-45768269 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
38 | rs560421847 | chr6:45768270-45768271 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs527781894 | chr6:45768304-45768305 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs546416741 | chr6:45768315-45768316 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs564721475 | chr6:45768355-45768356 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs2396557 | chr6:45768367-45768368 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
43 | rs535001106 | chr6:45768379-45768380 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs11754242 | chr6:45768386-45768387 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
45 | rs143865888 | chr6:45768416-45768417 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs548161453 | chr6:45768428-45768429 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs4349810 | chr6:45768429-45768430 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
48 | rs191109088 | chr6:45768431-45768432 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs559231274 | chr6:45768443-45768444 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs577530503 | chr6:45768479-45768480 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Leukemia | 21518781 | CNVD |
Cancer | 21637783 | CNVD |
Facial dysmorphism | 22105932 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Bladder cancer | 19088036 | CNVD |
Wilms tumour | 21544195 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Biliary cancer | 19435499 | CNVD |
Malaria | 21533027 | CNVD |
Retinoblastoma | 19183342 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21858162 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Melanoma | 18172304 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Autism | 22495311 | CNVD |
Cancer | 16790693 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gastric cancer | 17908304 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Neuroblastoma | 16790693 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Lung cancer | 18438408 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Osteosarcoma | 21197465 | CNVD |
Gastric cancer | 24379144 | CNVD |
Neuroblastoma | 18923191 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21364760 | CNVD |
Colorectal cancer | 16790693 | CNVD |
Congenital adrenal hyperplasia | 18478071 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18316590 | CNVD |
Systemic lupus erythematosus | 19287148 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Chordoma | 18071362 | CNVD |
Follicular lymphoma | 16790693 | CNVD |
Osteosarcoma | 19286668 | CNVD |
Neurocytoma | 17123091 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Heart disease | 21282601 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Breast cancer | 16608533 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:45763600-45780600 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
2 | chr6:45767800-45770200 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
3 | chr6:45768000-45768200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr6:45768200-45776000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr6:45768400-45770000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
6 | chr6:45768600-45769600 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr6:45768800-45769400 | Enhancers | Adipose Nuclei | Adipose |
8 | chr6:45768800-45770000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
9 | chr6:45768800-45770000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
10 | chr6:45768800-45770000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
11 | chr6:45769000-45770200 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr6:45769000-45770400 | Enhancers | Primary hematopoietic stem cells | blood |
13 | chr6:45769200-45769400 | Enhancers | Fetal Kidney | kidney |
14 | chr6:45769200-45769600 | Enhancers | GM12878-XiMat | blood |
15 | chr6:45769200-45769800 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
16 | chr6:45769200-45770000 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
17 | chr6:45769200-45770200 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
18 | chr6:45769400-45769800 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
19 | chr6:45769400-45770000 | Enhancers | NHDF-Ad | bronchial |
20 | chr6:45769400-45770200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
21 | chr6:45769400-45770800 | Weak transcription | Fetal Kidney | kidney |