Variant report
Variant | esv3430435 |
---|---|
Chromosome Location | chr6:4841453-4843501 |
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 | chr6:4840303..4841822-chr6:4847282..4849004,2 | MCF-7 | breast: |
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 | rs372074341 | chr6:4841454-4841455 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs369126254 | chr6:4841472-4841473 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs145207044 | chr6:4841474-4841475 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs546622048 | chr6:4841488-4841489 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs566745974 | chr6:4841574-4841575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs539679544 | chr6:4841587-4841588 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs556230336 | chr6:4841602-4841603 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs190271967 | chr6:4841627-4841628 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs113995411 | chr6:4841664-4841665 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs568677612 | chr6:4841694-4841695 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs182939912 | chr6:4841697-4841698 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs137896053 | chr6:4841713-4841714 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568008872 | chr6:4841714-4841715 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs141972510 | chr6:4841741-4841742 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs116465115 | chr6:4841747-4841748 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs573552699 | chr6:4841751-4841752 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187153973 | chr6:4841755-4841756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs113186901 | chr6:4841758-4841759 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs150694647 | chr6:4841789-4841790 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs544428971 | chr6:4841801-4841802 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs59469271 | chr6:4841803-4841804 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
22 | rs191485874 | chr6:4841864-4841865 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs530075815 | chr6:4841939-4841940 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs555827216 | chr6:4842032-4842033 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs540600973 | chr6:4842054-4842055 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs572067483 | chr6:4842063-4842064 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs184182349 | chr6:4842212-4842213 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs532290497 | chr6:4842218-4842219 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs559615749 | chr6:4842230-4842231 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs528280277 | chr6:4842237-4842238 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs187816711 | chr6:4842256-4842257 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs568712990 | chr6:4842259-4842260 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs531398146 | chr6:4842305-4842306 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs548020709 | chr6:4842315-4842316 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs568131365 | chr6:4842351-4842352 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs551538670 | chr6:4842377-4842378 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs571314644 | chr6:4842395-4842396 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs533577724 | chr6:4842425-4842426 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs530475118 | chr6:4842436-4842437 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs553749467 | chr6:4842441-4842442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs570426650 | chr6:4842448-4842449 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs111973934 | chr6:4842481-4842482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs539348478 | chr6:4842550-4842551 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs559292589 | chr6:4842551-4842552 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs547413800 | chr6:4842555-4842556 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs575951363 | chr6:4842572-4842573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs570776928 | chr6:4842607-4842608 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192382432 | chr6:4842620-4842621 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs373929543 | chr6:4842632-4842633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs554796254 | chr6:4842667-4842668 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Developmental delay | 19490664 | CNVD |
Cancer | 21183584 | CNVD |
Multiple Epiphyseal Dysplasia | 20877625 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Glaucoma | 18694899 | CNVD |
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 |
Thoracic aortic aneurysm | 21092924 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Prostate cancer | 18632612 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Bladder cancer | 21909424 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Breast cancer | 21364760 | CNVD |
Chronic lymphocytic leukemia | 21546498 | 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 |
Congenital anomalies of the kidney and urinary tract | 18694510 | CNVD |
Nasopharyngeal cancer | 22815911 | CNVD |
dysmorphism | 22105932 | CNVD |
psychomotor delay | 22105932 | CNVD |
Ovarian cancer | 19193619 | CNVD |
Osteosarcoma | 16790693 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:4820400-4844200 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr6:4821200-4853600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr6:4830000-4848800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr6:4830800-4844200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
5 | chr6:4835200-4844200 | Weak transcription | NHEK | skin |
6 | chr6:4836200-4844600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr6:4836800-4848600 | Weak transcription | Right Ventricle | heart |
8 | chr6:4837200-4842800 | Weak transcription | iPS-20b Cell Line | embryonic stem cell |
9 | chr6:4837400-4848400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
10 | chr6:4839600-4844200 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
11 | chr6:4840200-4847200 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
12 | chr6:4840800-4841600 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
13 | chr6:4840800-4842800 | Weak transcription | K562 | blood |
14 | chr6:4841000-4841600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
15 | chr6:4841400-4842000 | Enhancers | HepG2 | liver |
16 | chr6:4842400-4843400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
17 | chr6:4842800-4843400 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
18 | chr6:4842800-4843600 | Enhancers | iPS-20b Cell Line | embryonic stem cell |
19 | chr6:4842800-4843600 | ZNF genes & repeats | K562 | blood |
20 | chr6:4842800-4844800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
21 | chr6:4843000-4843400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
22 | chr6:4843400-4843800 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
23 | chr6:4843400-4843800 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |