Variant report
Variant | nsv970205 |
---|---|
Chromosome Location | chr6:26703817-26705796 |
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 | rs549063699 | chr6:26703819-26703820 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs559043208 | chr6:26703838-26703839 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs528104618 | chr6:26703842-26703843 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs551758857 | chr6:26703882-26703883 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs571586466 | chr6:26703888-26703889 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs537381009 | chr6:26703889-26703890 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs373235181 | chr6:26703895-26703896 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550759570 | chr6:26703907-26703908 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs567524541 | chr6:26703944-26703945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs536308855 | chr6:26703945-26703946 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs369376116 | chr6:26704035-26704036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs553447803 | chr6:26704056-26704057 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs573130723 | chr6:26704108-26704109 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs539003873 | chr6:26704137-26704138 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs559030165 | chr6:26704206-26704207 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
16 | rs377596202 | chr6:26704207-26704208 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
17 | rs577993438 | chr6:26704211-26704212 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
18 | rs543785110 | chr6:26704231-26704232 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
19 | rs563424540 | chr6:26704345-26704346 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
20 | rs573786583 | chr6:26704348-26704349 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
21 | rs542321112 | chr6:26704365-26704366 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
22 | rs559420347 | chr6:26704373-26704374 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
23 | rs528202071 | chr6:26704399-26704400 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
24 | rs551339936 | chr6:26704423-26704424 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
25 | rs556268460 | chr6:26704433-26704434 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
26 | rs564577869 | chr6:26704439-26704440 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
27 | rs373218145 | chr6:26704440-26704441 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
28 | rs531063915 | chr6:26704496-26704497 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
29 | rs550871956 | chr6:26704527-26704528 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
30 | rs567486062 | chr6:26704548-26704549 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
31 | rs530342200 | chr6:26704561-26704562 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
32 | rs546908577 | chr6:26704587-26704588 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
33 | rs566942802 | chr6:26704619-26704620 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
34 | rs377713997 | chr6:26704643-26704644 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538798848 | chr6:26704647-26704648 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
36 | rs558986642 | chr6:26704655-26704656 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
37 | rs569276212 | chr6:26704730-26704731 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
38 | rs374998086 | chr6:26704740-26704741 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
39 | rs565590251 | chr6:26704741-26704742 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
40 | rs386406578 | chr6:26704750-26704751 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
41 | rs386406579 | chr6:26704770-26704771 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
42 | rs537299147 | chr6:26704772-26704773 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
43 | rs577857202 | chr6:26704816-26704817 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
44 | rs573726315 | chr6:26704842-26704843 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
45 | rs542785161 | chr6:26704905-26704906 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
46 | rs545019110 | chr6:26704972-26704973 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
47 | rs572884110 | chr6:26704974-26704975 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
48 | rs377690698 | chr6:26705089-26705090 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
49 | rs544708492 | chr6:26705120-26705121 | Enhancers Weak transcription Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
50 | rs564501499 | chr6:26705219-26705220 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
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 |
Breast cancer | 21858162 | CNVD |
Lung cancer | 18438408 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Gastric cancer | 16891809 | CNVD |
Ovarian cancer | 21781307 | CNVD |
Autism | 21448237 | CNVD |
Cancer | 20164919 | CNVD |
Melanoma | 18172304 | 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 |
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 |
Hepatocellular carcinoma | 16750200 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Breast cancer | 17133270 | CNVD |
Autism | 22495311 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Cancer | 16790693 | CNVD |
Breast cancer | 22032731 | CNVD |
Cervical cancer | 21062161 | CNVD |
Breast cancer | 21785460 | CNVD |
Retinoblastoma | 16790693 | CNVD |
Esophageal adenocarcinoma | 18820669 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Cancer | 21183584 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Williams-beuren syndrome | 16971481 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Gastric cancer | 17908304 | CNVD |
Lung cancer | 21569311 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Breast cancer | 16397240 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 21509527 | CNVD |
Breast cancer | 21364760 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:26701800-26704800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
2 | chr6:26701800-26705000 | Weak transcription | HMEC | breast |
3 | chr6:26702000-26704200 | Weak transcription | H1 Cell Line | embryonic stem cell |
4 | chr6:26702000-26704400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
5 | chr6:26702000-26705000 | Weak transcription | HUES64 Cell Line | embryonic stem cell |
6 | chr6:26702000-26706400 | Weak transcription | H9 Cell Line | embryonic stem cell |
7 | chr6:26702400-26704200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
8 | chr6:26702400-26704200 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
9 | chr6:26704200-26704400 | Enhancers | HUES6 Cell Line | embryonic stem cell |
10 | chr6:26704200-26704600 | Bivalent Enhancer | K562 | blood |
11 | chr6:26704200-26705600 | Enhancers | H1 Cell Line | embryonic stem cell |
12 | chr6:26704200-26705800 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
13 | chr6:26704400-26704800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
14 | chr6:26704400-26705600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
15 | chr6:26704400-26705600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
16 | chr6:26704400-26705600 | Bivalent Enhancer | HepG2 | liver |
17 | chr6:26704800-26705200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
18 | chr6:26704800-26705600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
19 | chr6:26705000-26705400 | Enhancers | NHEK | skin |
20 | chr6:26705000-26705600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
21 | chr6:26705000-26705600 | Enhancers | HMEC | breast |
22 | chr6:26705200-26705600 | Flanking Active TSS | HUES6 Cell Line | embryonic stem cell |
23 | chr6:26705400-26705600 | Flanking Active TSS | Foreskin Keratinocyte Primary Cells skin02 | Skin |
24 | chr6:26705600-26706000 | Flanking Bivalent TSS/Enh | HepG2 | liver |