Variant report
Variant | esv3328816 |
---|---|
Chromosome Location | chr6:11443666-11445664 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- 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 | rs562209913 | chr6:11443689-11443690 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs181858256 | chr6:11443735-11443736 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs146964819 | chr6:11443753-11443754 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs184827585 | chr6:11443760-11443761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs564746231 | chr6:11443761-11443762 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs137985006 | chr6:11443770-11443771 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs547286044 | chr6:11443777-11443778 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs565501096 | chr6:11443803-11443804 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs528092640 | chr6:11443852-11443853 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs116050808 | chr6:11443853-11443854 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs4495265 | chr6:11443862-11443863 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs536836014 | chr6:11443918-11443919 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs556768189 | chr6:11443929-11443930 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs570335873 | chr6:11443986-11443987 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs73353910 | chr6:11444022-11444023 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs556682738 | chr6:11444023-11444024 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs553233218 | chr6:11444035-11444036 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs544051555 | chr6:11444175-11444176 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs142186270 | chr6:11444184-11444185 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs143106697 | chr6:11444185-11444186 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs59702818 | chr6:11444223-11444224 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs189620339 | chr6:11444224-11444225 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs555881737 | chr6:11444227-11444228 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs117763608 | chr6:11444230-11444231 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560756427 | chr6:11444249-11444250 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs9368707 | chr6:11444309-11444310 | Enhancers Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
27 | rs578131989 | chr6:11444324-11444325 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs540524953 | chr6:11444345-11444346 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs34828509 | chr6:11444350-11444351 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs370753655 | chr6:11444354-11444355 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs576671857 | chr6:11444375-11444376 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs560888055 | chr6:11444383-11444384 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs202099049 | chr6:11444384-11444385 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs528064956 | chr6:11444391-11444392 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs542506934 | chr6:11444395-11444396 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs369309957 | chr6:11444404-11444405 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs180703268 | chr6:11444407-11444408 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs185327767 | chr6:11444413-11444414 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs555519169 | chr6:11444473-11444474 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs376632472 | chr6:11444478-11444479 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs572389959 | chr6:11444480-11444481 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs369723837 | chr6:11444497-11444498 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs530496958 | chr6:11444501-11444502 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs550278518 | chr6:11444504-11444505 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs570504472 | chr6:11444509-11444510 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs539664487 | chr6:11444529-11444530 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs546566910 | chr6:11444554-11444555 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs191073429 | chr6:11444560-11444561 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs535459034 | chr6:11444570-11444571 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs564264722 | chr6:11444574-11444575 | Enhancers Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Prostate cancer | 16573809 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 17603634 | CNVD |
Cancer | 20164920 | CNVD |
Colorectal cancer | 21297112 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
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 |
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 |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Gastric cancer | 16891809 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 22495311 | CNVD |
Autism | 21448237 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 18172304 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Breast cancer | 22844521 | CNVD |
HIV/AIDS | 22844521 | CNVD |
Ovarian cancer | 22844521 | CNVD |
Prostate cancer | 22844521 | CNVD |
Psoriasis | 22844521 | CNVD |
Rheumatoid arthritis | 22844521 | CNVD |
Sclerosis systemic | 22844521 | CNVD |
Systemic lupus erythematosus | 22844521 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21552322 | CNVD |
Immune disease | 21076436 | CNVD |
Autoimmune disease | 19135723 | CNVD |
Systemic lupus erythematosus | 17953491 | CNVD |
Recurrent Infections | 22737222 | CNVD |
Systemic lupus erythematosus | 21904924 | CNVD |
Ependymoma | 19289631 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Gestational infection | 22844521 | CNVD |
Head circumference | 22844521 | CNVD |
Infertility | 22844521 | CNVD |
Recurrent birth weight diabetes | 22844521 | CNVD |
Obesity | 22844521 | CNVD |
Recurrent pregnancy loss | 22844521 | CNVD |
Intellectual disability | 21811512 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Nasopharyngeal cancer | 22815911 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Melanoma | 20688739 | CNVD |
Cancer | 21183584 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Breast cancer | 17133270 | CNVD |
Breast cancer | 21364760 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Bladder cancer | 21909424 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:11442400-11443800 | Enhancers | HepG2 | liver |
2 | chr6:11442400-11445000 | Enhancers | Primary B cells from peripheral blood | blood |
3 | chr6:11442600-11443800 | Enhancers | Stomach Mucosa | stomach |
4 | chr6:11442800-11446000 | Enhancers | Primary B cells from cord blood | blood |
5 | chr6:11443800-11449200 | Weak transcription | HepG2 | liver |
6 | chr6:11444600-11446000 | Enhancers | GM12878-XiMat | blood |