Variant report
Variant | nsv820487 |
---|---|
Chromosome Location | chr14:19189577-19325108 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:88)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BRCA1 | chr14:19264643-19264785 | GM12878 | blood: | n/a | n/a |
2 | CEBPB | chr14:19303507-19303883 | HepG2 | liver: | n/a | chr14:19303692-19303703 |
3 | CEBPB | chr14:19303651-19303853 | IMR90 | lung: | n/a | chr14:19303692-19303703 |
4 | CEBPB | chr14:19225043-19225319 | HepG2 | liver: | n/a | chr14:19225141-19225152 |
5 | CEBPB | chr14:19292550-19292762 | HepG2 | liver: | n/a | chr14:19292595-19292606 |
6 | CTCF | chr14:19218172-19218258 | GM13976 | blood: | n/a | n/a |
7 | CTCF | chr14:19313717-19313739 | Pancreas_OC | pancreas: | n/a | n/a |
8 | CTCF | chr14:19247020-19247073 | Spleen_OC | spleen: | n/a | n/a |
9 | CTCF | chr14:19314929-19315024 | LNCaP | prostate: | n/a | n/a |
10 | CTCF | chr14:19194384-19194444 | LNCaP | prostate: | n/a | n/a |
11 | CTCF | chr14:19250505-19250618 | LNCaP | prostate: | n/a | n/a |
12 | CTCF | chr14:19216419-19216440 | GM13976 | blood: | n/a | n/a |
13 | CTCF | chr14:19309043-19309075 | Medullo | brain: | n/a | n/a |
14 | CTCF | chr14:19323090-19323096 | GM13976 | blood: | n/a | n/a |
15 | CTCF | chr14:19200488-19200538 | GM20000 | blood: | n/a | n/a |
16 | CTCF | chr14:19250213-19250276 | LNCaP | prostate: | n/a | n/a |
17 | CTCF | chr14:19290691-19290776 | Spleen_OC | spleen: | n/a | n/a |
18 | CTCF | chr14:19248982-19249064 | Medullo | brain: | n/a | n/a |
19 | CTCF | chr14:19227246-19227291 | LNCaP | prostate: | n/a | n/a |
20 | CTCF | chr14:19258070-19258110 | GM13976 | blood: | n/a | n/a |
21 | CTCF | chr14:19210925-19210967 | LNCaP | prostate: | n/a | n/a |
22 | CTCF | chr14:19211105-19211156 | LNCaP | prostate: | n/a | n/a |
23 | CTCF | chr14:19262669-19262781 | GM13976 | blood: | n/a | n/a |
24 | CTCF | chr14:19289941-19290030 | Lung_OC | lung: | n/a | n/a |
25 | CTCF | chr14:19243961-19244033 | LNCaP | prostate: | n/a | n/a |
26 | CTCF | chr14:19217036-19217086 | LNCaP | prostate: | n/a | n/a |
27 | CTCF | chr14:19270796-19270860 | Spleen_OC | spleen: | n/a | n/a |
28 | CTCF | chr14:19303734-19303771 | LNCaP | prostate: | n/a | n/a |
29 | CTCF | chr14:19207062-19207079 | LNCaP | prostate: | n/a | n/a |
30 | EBF1 | chr14:19245451-19245627 | GM12878 | blood: | n/a | n/a |
31 | EBF1 | chr14:19247268-19247471 | GM12878 | blood: | n/a | n/a |
32 | ELK1 | chr14:19264654-19264695 | GM12878 | blood: | n/a | n/a |
33 | ELK1 | chr14:19266586-19266899 | Hela-S3 | cervix: | n/a | n/a |
34 | EP300 | chr14:19247293-19247561 | GM12878 | blood: | n/a | n/a |
35 | EP300 | chr14:19246367-19246648 | GM12878 | blood: | n/a | n/a |
36 | EP300 | chr14:19248223-19248522 | GM12878 | blood: | n/a | n/a |
37 | FOSL2 | chr14:19193154-19193478 | HepG2 | liver: | n/a | n/a |
38 | FOSL2 | chr14:19193082-19193384 | HepG2 | liver: | n/a | n/a |
39 | FOXA1 | chr14:19303439-19303937 | HepG2 | liver: | n/a | n/a |
40 | FOXA1 | chr14:19193137-19193568 | HepG2 | liver: | n/a | n/a |
41 | JUND | chr14:19238522-19238691 | HepG2 | liver: | n/a | n/a |
42 | JUND | chr14:19246440-19246607 | HepG2 | liver: | n/a | n/a |
43 | JUND | chr14:19193204-19193347 | HepG2 | liver: | n/a | n/a |
44 | JUND | chr14:19193152-19193343 | HepG2 | liver: | n/a | n/a |
45 | JUND | chr14:19293294-19293490 | HepG2 | liver: | n/a | n/a |
46 | MYC | chr14:19261480-19261512 | GM12878 | blood: | n/a | n/a |
47 | MYC | chr14:19261524-19261541 | GM12878 | blood: | n/a | n/a |
48 | MYC | chr14:19245877-19245979 | HUVEC | blood vessel: | n/a | n/a |
49 | MYC | chr14:19261453-19261464 | GM12878 | blood: | n/a | n/a |
50 | PAX5 | chr14:19285752-19286191 | GM12878 | blood: | n/a | n/a |
No data |
No data |
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OR11H12.1-5 | chr14:19195252-19195750 | NONHSAT035433 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000238442 | TF binding region |
ENSG00000257171 | TF binding region |
ENSG00000257356 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs376827105 | chr14:19193101-19193102 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
2 | rs369352247 | chr14:19193131-19193132 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
3 | rs373158522 | chr14:19193153-19193154 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
4 | rs377446751 | chr14:19193206-19193207 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
5 | rs370015465 | chr14:19193215-19193216 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
6 | rs535477544 | chr14:19193260-19193261 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
7 | rs554079647 | chr14:19193315-19193316 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
8 | rs566049355 | chr14:19193416-19193417 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
9 | rs539718097 | chr14:19193452-19193453 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
10 | rs557933974 | chr14:19193537-19193538 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
11 | rs576521635 | chr14:19193551-19193552 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
12 | rs533155196 | chr14:19194402-19194403 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs551687969 | chr14:19194430-19194431 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs367766488 | chr14:19194442-19194443 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs563675171 | chr14:19194994-19194995 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs367912872 | chr14:19195017-19195018 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs531115998 | chr14:19195032-19195033 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs372136499 | chr14:19195049-19195050 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs549613752 | chr14:19195264-19195265 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
20 | rs567900341 | chr14:19195296-19195297 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
21 | rs79292222 | chr14:19195326-19195327 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
22 | rs77761376 | chr14:19195327-19195328 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
23 | rs375763763 | chr14:19195510-19195511 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
24 | rs369027091 | chr14:19195686-19195687 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
25 | rs186047812 | chr14:19248917-19248918 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs549290335 | chr14:19248932-19248933 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs543682135 | chr14:19248941-19248942 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs534412454 | chr14:19249002-19249003 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs552612135 | chr14:19249036-19249037 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs111890099 | chr14:19249056-19249057 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs112081783 | chr14:19250550-19250551 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs77411081 | chr14:19250576-19250577 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs562540983 | chr14:19250598-19250599 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs567775393 | chr14:19250615-19250616 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs371858539 | chr14:19265218-19265219 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
36 | rs560693687 | chr14:19265228-19265229 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
37 | rs376547842 | chr14:19265259-19265260 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
38 | rs113635895 | chr14:19265263-19265264 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
39 | rs137932929 | chr14:19265264-19265265 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
40 | rs143400563 | chr14:19265280-19265281 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
41 | rs531986430 | chr14:19265343-19265344 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
42 | rs550912892 | chr14:19265354-19265355 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
43 | rs147130977 | chr14:19265362-19265363 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
44 | rs529943665 | chr14:19265364-19265365 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
45 | rs116591955 | chr14:19265372-19265373 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
46 | rs567695494 | chr14:19265381-19265382 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
47 | rs189299854 | chr14:19265385-19265386 | Active TSS | n/a | n/a | Overlapped CNVs | n/a |
48 | rs181338505 | chr14:19265404-19265405 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
49 | rs553162595 | chr14:19265421-19265422 | ZNF genes & repeats Active TSS | n/a | n/a | Overlapped CNVs | n/a |
50 | rs571630312 | chr14:19265428-19265429 | ZNF genes & repeats Active TSS | 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 |
Lung cancer | 18438408 | 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 |
Schizophrenia | 20967226 | CNVD |
Autism | 19287141 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Breast cancer | 20932292 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Breast cancer | 17142309 | CNVD |
Breast cancer | 21364760 | CNVD |
Rett syndrome | 21593744 | CNVD |
Breast cancer | 20369283 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Incontinentia Pigmenti | 22033527 | 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 |
Breast cancer | 22522925 | CNVD |
Oligozoospermia | 20877625 | CNVD |
Sertoli-cell only syndrome | 20877625 | CNVD |
Ependymoma | 20639864 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Developmental delay | 21147756 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:19265200-19265800 | Active TSS | Fetal Heart | heart |
2 | chr14:19265400-19268400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr14:19265800-19266200 | ZNF genes & repeats | Fetal Heart | heart |
4 | chr14:19265800-19268200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
5 | chr14:19267800-19268200 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |