Variant report
Variant | nsv1019592 |
---|---|
Chromosome Location | chr7:146216403-146254660 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:11)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:11 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:146233829..146237981-chr7:146239048..146242381,3 | K562 | blood: | |
2 | chr7:146218663..146220182-chr7:146222082..146223804,2 | K562 | blood: | |
3 | chr16:70557427..70557946-chr7:146244932..146245452,2 | Hela-S3 | cervix: | |
4 | chr7:146250194..146253829-chr7:146254649..146256608,3 | K562 | blood: | |
5 | chr7:146235172..146238852-chr7:146239684..146242381,3 | K562 | blood: | |
6 | chr7:146253504..146256343-chr7:146261873..146263479,2 | K562 | blood: | |
7 | chr7:146250194..146253829-chr7:146254649..146256608,3 | K562 | blood: | |
8 | chr7:146235172..146238852-chr7:146239684..146242381,3 | K562 | blood: | |
9 | chr7:146210624..146213403-chr7:146216650..146219300,2 | MCF-7 | breast: | |
10 | chr7:146233829..146237981-chr7:146239048..146242381,3 | K562 | blood: | |
11 | chr7:146218663..146220182-chr7:146222082..146223804,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000189091 | chromatin interactions |
ENSG00000103051 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs146385649 | chr7:146216411-146216412 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs578245099 | chr7:146216429-146216430 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs34417131 | chr7:146216460-146216461 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs543810368 | chr7:146216474-146216475 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs562497698 | chr7:146216508-146216509 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs117591517 | chr7:146216609-146216610 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs535219945 | chr7:146216632-146216633 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs111381289 | chr7:146216670-146216671 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs77615181 | chr7:146216681-146216682 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs139367612 | chr7:146216705-146216706 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs527415597 | chr7:146216723-146216724 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs149604408 | chr7:146216747-146216748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs801969 | chr7:146216767-146216768 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
14 | rs533253879 | chr7:146216776-146216777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs549811219 | chr7:146216828-146216829 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs376037588 | chr7:146216834-146216835 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs569993643 | chr7:146216840-146216841 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs557113389 | chr7:146216866-146216867 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs564148846 | chr7:146216920-146216921 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs535495947 | chr7:146216922-146216923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs549469994 | chr7:146216929-146216930 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs566154908 | chr7:146216998-146216999 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs529358515 | chr7:146223405-146223406 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs539637715 | chr7:146223413-146223414 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs73741731 | chr7:146223449-146223450 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs551486831 | chr7:146223527-146223528 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs73741732 | chr7:146223576-146223577 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs376090968 | chr7:146223590-146223591 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs148493905 | chr7:146223594-146223595 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs563414807 | chr7:146223633-146223634 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs142681207 | chr7:146223664-146223665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs188703999 | chr7:146223673-146223674 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs142273432 | chr7:146223676-146223677 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs801950 | chr7:146223694-146223695 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
35 | rs150992819 | chr7:146223701-146223702 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs555067542 | chr7:146223745-146223746 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs549600957 | chr7:146223746-146223747 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs801949 | chr7:146223754-146223755 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
39 | rs540852284 | chr7:146223763-146223764 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs564348613 | chr7:146223786-146223787 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs567916846 | chr7:146223844-146223845 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs533074620 | chr7:146223878-146223879 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs192601707 | chr7:146223890-146223891 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs113469149 | chr7:146223898-146223899 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs801948 | chr7:146223919-146223920 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
46 | rs529321209 | chr7:146223928-146223929 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs549468141 | chr7:146223951-146223952 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs801947 | chr7:146223956-146223957 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs183025529 | chr7:146223971-146223972 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs367898017 | chr7:146223972-146223973 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Seminomas | 18059402 | CNVD |
Testicular cancer | 18059402 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Malaria | 21533027 | CNVD |
Melanoma | 18172304 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
head and neck squamous cell carcinoma | 19289630 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Wilms tumour | 21544195 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Astrocytoma | 17387387 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 21264507 | CNVD |
Shwachman-Diamond syndrome | 22934832 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Cutaneous malignant melanoma | 17690212 | CNVD |
Leukemia | 17361228 | CNVD |
Breast cancer | 16461572 | CNVD |
Peripheral t-cell lymphoma | 19118030 | CNVD |
Malignant melanoma | 17690212 | CNVD |
Renal cell carcinoma | 18592004 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Prostate cancer | 16573809 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
abnormal development | 18461090 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
Hodgkin''s lymphoma | 18179710 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Breast cancer | 16272173 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Stuttering | 21108403 | CNVD |
Breast cancer | 17603634 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Myelodysplastic syndrome | 17634407 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Breast cancer | 17133270 | CNVD |
Schizophrenia | 17646849 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Heart disease | 21282601 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Gastric adenocarcinoma | 19115996 | CNVD |
Pancreatitis | 21956041 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Gastric cancer | 16891809 | CNVD |
Lung cancer | 17086460 | CNVD |
Autism | 19546859 | CNVD |
Schizophrenia | 19546859 | CNVD |
Tourette syndrome | 19546859 | CNVD |
Cancer | 20164920 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Autism | 20808228 | CNVD |
Schizophrenia | 20838587 | CNVD |
Schizophrenia | 20718829 | CNVD |
Neuropsychiatric disorder | 21827697 | CNVD |
Melanoma | 20877625 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 21509527 | CNVD |
Autism | 20964600 | CNVD |
Epilepsy | 17646849 | CNVD |
Mental retardation | 19896112 | CNVD |
Epilepsy | 20502679 | CNVD |
Cancer | 20164919 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Attention deficit hyperactivity disorder | 19546859 | CNVD |
Medulloblastoma | 21163964 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:146215800-146216600 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
2 | chr7:146215800-146217000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
3 | chr7:146216000-146216600 | Enhancers | HUES64 Cell Line | embryonic stem cell |
4 | chr7:146216000-146216800 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr7:146216200-146216800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
6 | chr7:146223400-146223800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
7 | chr7:146223800-146225800 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
8 | chr7:146225600-146226000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
9 | chr7:146225600-146226800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
10 | chr7:146225800-146226400 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
11 | chr7:146226800-146229400 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
12 | chr7:146229400-146229800 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
13 | chr7:146231400-146242000 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
14 | chr7:146235400-146235600 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
15 | chr7:146235600-146236600 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
16 | chr7:146236200-146237800 | Enhancers | Fetal Kidney | kidney |
17 | chr7:146236600-146237000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
18 | chr7:146238800-146239400 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
19 | chr7:146239000-146239400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
20 | chr7:146239200-146239400 | Bivalent Enhancer | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |