Variant report
Variant | nsv525130 |
---|---|
Chromosome Location | chr14:22289359-22292805 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | FOS | chr14:22289381-22289466 | MCF10A-Er-Src | breast: | n/a | n/a |
2 | FOS | chr14:22289351-22289448 | MCF10A-Er-Src | breast: | n/a | n/a |
3 | FOS | chr14:22289361-22289560 | MCF10A-Er-Src | breast: | n/a | n/a |
4 | GATA1 | chr14:22288838-22289710 | PBDE | blood: | n/a | n/a |
5 | POLR2A | chr14:22290184-22290376 | MCF10A-Er-Src | breast: | n/a | n/a |
6 | STAT3 | chr14:22289326-22289644 | MCF10A-Er-Src | breast: | n/a | n/a |
7 | STAT3 | chr14:22289333-22289676 | MCF10A-Er-Src | breast: | n/a | n/a |
8 | STAT3 | chr14:22289321-22289648 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | STAT3 | chr14:22289349-22289661 | MCF10A-Er-Src | breast: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:22292347-22292397 | NT2-D1 | testis: | n/a |
2 | chr14:22292347-22292397 | HL-60 | blood: | n/a |
3 | chr14:22292347-22292397 | CMK | blood: | n/a |
4 | chr14:22292347-22292397 | MCF10A-Er-Src | breast: | n/a |
5 | chr14:22292347-22292397 | AG10803 | skin: | n/a |
6 | chr14:22292347-22292397 | HNPCEpiC | eye: | n/a |
7 | chr14:22292347-22292397 | H1-hESC | embryonic stem cell: | embryo |
8 | chr14:22292347-22292397 | HRPEpiC | eye: | n/a |
9 | chr14:22292347-22292397 | AG09319 | gingival: | n/a |
10 | chr14:22292347-22292397 | HIPEpiC | eye: | n/a |
11 | chr14:22292347-22292397 | ovcar-3 | ovarian: | n/a |
12 | chr14:22292347-22292397 | GM12892 | blood: | n/a |
13 | chr14:22292347-22292397 | HEK293 | kidney: | embryo |
14 | chr14:22292347-22292397 | GM12878 | blood: | n/a |
15 | chr14:22292347-22292397 | PFSK-1 | brain: | n/a |
16 | chr14:22292347-22292397 | HPAEpiC | pulmonary alveolar: | n/a |
17 | chr14:22292347-22292397 | BJ | skin: | n/a |
18 | chr14:22292347-22292397 | HEEpiC | esophagus: | n/a |
19 | chr14:22292347-22292397 | GM19239 | blood: | n/a |
20 | chr14:22292347-22292397 | SK-N-SH | brain: | n/a |
21 | chr14:22292347-22292397 | RPTEC | kidney: | n/a |
22 | chr14:22292347-22292397 | HAEpiC | amniotic membrane: | n/a |
23 | chr14:22292347-22292397 | A549 | lung: | n/a |
24 | chr14:22292347-22292397 | AoSMC | blood vessel: | n/a |
25 | chr14:22292347-22292397 | ProgFib | skin: | n/a |
26 | chr14:22292347-22292397 | HUVEC | blood vessel: | n/a |
27 | chr14:22292347-22292397 | SKMC | muscle: | n/a |
28 | chr14:22292347-22292397 | PrEC | prostate: | n/a |
29 | chr14:22292347-22292397 | HCF | heart: | n/a |
30 | chr14:22292347-22292397 | HCT-116 | colon: | n/a |
31 | chr14:22292347-22292397 | ECC-1 | luminal epithelium: | n/a |
32 | chr14:22292347-22292397 | NHDF-neo | bronchial: | n/a |
33 | chr14:22292347-22292397 | HepG2 | liver: | n/a |
34 | chr14:22292347-22292397 | HRE | kidney: | n/a |
35 | chr14:22292347-22292397 | Caco-2 | colon: | n/a |
36 | chr14:22292347-22292397 | GM12891 | blood: | n/a |
37 | chr14:22292347-22292397 | GM06990 | blood: | n/a |
38 | chr14:22292347-22292397 | U87 | brain: | n/a |
39 | chr14:22292347-22292397 | AG04450 | lung: | fetal |
40 | chr14:22292347-22292397 | HCM | heart: | n/a |
41 | chr14:22292347-22292397 | NHBE | bronchial: | n/a |
42 | chr14:22292347-22292397 | Jurkat | blood: | n/a |
43 | chr14:22292347-22292397 | Hepatocyte | liver: | n/a |
44 | chr14:22292347-22292397 | SK-N-MC | brain: | n/a |
45 | chr14:22292347-22292397 | NH-A | brain: | n/a |
46 | chr14:22292347-22292397 | T-47D | breast: | n/a |
47 | chr14:22292347-22292397 | HCPEpiC | choroid plexus: | n/a |
48 | chr14:22292347-22292397 | BE2_C | brain: | n/a |
49 | chr14:22292347-22292397 | IMR90 | lung: | fetal |
50 | chr14:22292347-22292397 | K562 | blood: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
TRAV10 | TF binding region |
TRAV11 | TF binding region |
TRAV10 | CpG island |
TRAV11 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs7155867 | chr14:22289359-22289360 | Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs376851021 | chr14:22289363-22289364 | Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs545437083 | chr14:22289371-22289372 | Enhancers Flanking Active TSS | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs368969191 | chr14:22289421-22289422 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs185080167 | chr14:22289452-22289453 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs531493492 | chr14:22289457-22289458 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs191815001 | chr14:22289464-22289465 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs141731914 | chr14:22289466-22289467 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs527465577 | chr14:22289525-22289526 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs547584326 | chr14:22289538-22289539 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs570815095 | chr14:22289540-22289541 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs147120582 | chr14:22289541-22289542 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs116816548 | chr14:22289542-22289543 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs367761517 | chr14:22289554-22289555 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs73590403 | chr14:22289570-22289571 | Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
16 | rs12897433 | chr14:22289606-22289607 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
17 | rs11157248 | chr14:22289663-22289664 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
18 | rs74355796 | chr14:22289689-22289690 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs377616452 | chr14:22289717-22289718 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs558334117 | chr14:22289726-22289727 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs577803847 | chr14:22289731-22289732 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs545556328 | chr14:22289742-22289743 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs369105993 | chr14:22289794-22289795 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs200551300 | chr14:22289845-22289846 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs184152005 | chr14:22289929-22289930 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs545924670 | chr14:22289950-22289951 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs12887802 | chr14:22290038-22290039 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
28 | rs74580854 | chr14:22290051-22290052 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs541445379 | chr14:22290089-22290090 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs561613456 | chr14:22290119-22290120 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs527591053 | chr14:22290170-22290171 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs188900418 | chr14:22290171-22290172 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs191781726 | chr14:22290266-22290267 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs183184739 | chr14:22290277-22290278 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs61972116 | chr14:22290293-22290294 | Weak transcription Enhancers | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
36 | rs570188482 | chr14:22290297-22290298 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs112706786 | chr14:22290319-22290320 | Weak transcription Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs549410251 | chr14:22290410-22290411 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs566196649 | chr14:22290493-22290494 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs191797467 | chr14:22290521-22290522 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs558059131 | chr14:22290529-22290530 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs183637385 | chr14:22290534-22290535 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs141845746 | chr14:22290574-22290575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs72671958 | chr14:22290603-22290604 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs187931464 | chr14:22290605-22290606 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs531581713 | chr14:22290618-22290619 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs193044700 | chr14:22290642-22290643 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs34971038 | chr14:22290702-22290703 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs550468555 | chr14:22290748-22290749 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs185598854 | chr14:22290755-22290756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Cancer | 20164920 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Cone-rod dystrophy | 18421352 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Melanoma | 18172304 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Oral cancer | 21386901 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Breast cancer | 17899364 | CNVD |
Colorectal cancer | 16774939 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Alzheimer''s disease | 21482944 | CNVD |
Mental retardation | 19951919 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Heart disease | 21282601 | CNVD |
Esophageal cancer | 20955586 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Lung cancer | 16773561 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Cancer | 17440070 | CNVD |
Breast cancer | 16272173 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Epilepsy | 20736978 | CNVD |
Mental retardation | 20736978 | CNVD |
severe speech impairment | 20736978 | CNVD |
speech impairment | 20736978 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Developmental delay | 21147756 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Gastrointestinal stromal cancer | 20818650 | CNVD |
Renal cell carcinoma | 21668985 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Chronic myeloid leukemia | 20724749 | CNVD |
Breast cancer | 21364760 | CNVD |
Schizophrenia | 23813976 | CNVD |
Barrett''s syndrome | 19417022 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:22288000-22290400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
2 | chr14:22288200-22290000 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
3 | chr14:22288600-22289800 | Enhancers | Primary hematopoietic stem cells | blood |
4 | chr14:22288600-22291000 | Enhancers | HMEC | breast |
5 | chr14:22288800-22289600 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr14:22288800-22290400 | Enhancers | NHEK | skin |
7 | chr14:22289000-22289400 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
8 | chr14:22289400-22290400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
9 | chr14:22289600-22290800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
10 | chr14:22290800-22291000 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |