Variant report
Variant | nsv976302 |
---|---|
Chromosome Location | chr14:19056923-19195540 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:399)
- CpG islands (count:183)
- Chromatin interactive region (count:0)
- LncRNA region (count:6)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr14:19109438-19109488 | NB4 | blood: | n/a |
2 | chr14:19110297-19110347 | BE2_C | brain: | n/a |
3 | chr14:19109768-19109818 | NHDF-neo | bronchial: | n/a |
4 | chr14:19110297-19110347 | HAEpiC | amniotic membrane: | n/a |
5 | chr14:19109768-19109818 | AG09319 | gingival: | n/a |
6 | chr14:19109768-19109818 | HIPEpiC | eye: | n/a |
7 | chr14:19109768-19109818 | HCT-116 | colon: | n/a |
8 | chr14:19109768-19109818 | NB4 | blood: | n/a |
9 | chr14:19109768-19109818 | HRE | kidney: | n/a |
10 | chr14:19109438-19109488 | SAEC | small airway: | n/a |
11 | chr14:19109438-19109488 | RPTEC | kidney: | n/a |
12 | chr14:19110297-19110347 | U87 | brain: | n/a |
13 | chr14:19109768-19109818 | HepG2 | liver: | n/a |
14 | chr14:19110297-19110347 | GM19239 | blood: | n/a |
15 | chr14:19109768-19109818 | NT2-D1 | testis: | n/a |
16 | chr14:19109438-19109488 | NT2-D1 | testis: | n/a |
17 | chr14:19110297-19110347 | SAEC | small airway: | n/a |
18 | chr14:19110297-19110347 | PFSK-1 | brain: | n/a |
19 | chr14:19109768-19109818 | AG09309 | skin: | n/a |
20 | chr14:19109768-19109818 | HAEpiC | amniotic membrane: | n/a |
21 | chr14:19109438-19109488 | HRPEpiC | eye: | n/a |
22 | chr14:19109438-19109488 | PANC-1 | pancreas: | n/a |
23 | chr14:19110297-19110347 | HPAEpiC | pulmonary alveolar: | n/a |
24 | chr14:19109438-19109488 | HPAEpiC | pulmonary alveolar: | n/a |
25 | chr14:19110297-19110347 | ProgFib | skin: | n/a |
26 | chr14:19109438-19109488 | MCF10A-Er-Src | breast: | n/a |
27 | chr14:19110297-19110347 | AoSMC | blood vessel: | n/a |
28 | chr14:19109768-19109818 | HEK293 | kidney: | embryo |
29 | chr14:19109768-19109818 | AoSMC | blood vessel: | n/a |
30 | chr14:19109438-19109488 | GM12878 | blood: | n/a |
31 | chr14:19109768-19109818 | GM12878 | blood: | n/a |
32 | chr14:19110297-19110347 | HRCEpiC | kidney: | n/a |
33 | chr14:19110297-19110347 | CMK | blood: | n/a |
34 | chr14:19109438-19109488 | BJ | skin: | n/a |
35 | chr14:19109438-19109488 | LNCaP | prostate: | n/a |
36 | chr14:19110297-19110347 | BJ | skin: | n/a |
37 | chr14:19109768-19109818 | SK-N-MC | brain: | n/a |
38 | chr14:19110297-19110347 | HCPEpiC | choroid plexus: | n/a |
39 | chr14:19109438-19109488 | HCM | heart: | n/a |
40 | chr14:19109768-19109818 | HUVEC | blood vessel: | n/a |
41 | chr14:19109768-19109818 | AG04449 | skin: | fetal |
42 | chr14:19109438-19109488 | IMR90 | lung: | fetal |
43 | chr14:19109438-19109488 | K562 | blood: | n/a |
44 | chr14:19109438-19109488 | A549 | lung: | n/a |
45 | chr14:19109768-19109818 | GM12891 | blood: | n/a |
46 | chr14:19110297-19110347 | HIPEpiC | eye: | n/a |
47 | chr14:19109768-19109818 | ECC-1 | luminal epithelium: | n/a |
48 | chr14:19110297-19110347 | ovcar-3 | ovarian: | n/a |
49 | chr14:19109438-19109488 | AG10803 | skin: | n/a |
50 | chr14:19109438-19109488 | AG09319 | gingival: | n/a |
No data |
(count:6 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-OR11H12.1-6 | chr14:19114720-19114893 | NONHSAT035431 |
2 | lnc-OR11H12.1-6 | chr14:19117091-19117203 | NONHSAT035431 |
3 | lnc-OR11H12.1-6 | chr14:19110203-19110377 | NONHSAT035431 |
4 | lnc-OR11H12.1-6 | chr14:19118171-19118336 | NONHSAT035431 |
5 | lnc-OR11H12.1-6 | chr14:19114450-19114555 | NONHSAT035431 |
6 | lnc-OR11H12.1-5 | chr14:19195252-19195750 | NONHSAT035433 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000215398 | TF binding region |
ENSG00000257171 | TF binding region |
RNU6-458P | TF binding region |
ENSG00000257356 | TF binding region |
ENSG00000215398 | CpG island |
ENSG00000257171 | CpG island |
RNU6-458P | CpG island |
ENSG00000257356 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs371158553 | chr14:19068407-19068408 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs575204767 | chr14:19068431-19068432 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs542480994 | chr14:19068442-19068443 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs560694344 | chr14:19068470-19068471 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs527396143 | chr14:19068494-19068495 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
6 | rs28630717 | chr14:19068502-19068503 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
7 | rs28667659 | chr14:19068516-19068517 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545855302 | chr14:19068526-19068527 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs563940243 | chr14:19068540-19068541 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs28654220 | chr14:19068544-19068545 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs531241650 | chr14:19068548-19068549 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs549344792 | chr14:19068563-19068564 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs372470248 | chr14:19068571-19068572 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs28417618 | chr14:19068574-19068575 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs568061475 | chr14:19068590-19068591 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs28721282 | chr14:19068592-19068593 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs547286397 | chr14:19068596-19068597 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs113891356 | chr14:19068648-19068649 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs565823015 | chr14:19068653-19068654 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs534057924 | chr14:19068664-19068665 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs558978600 | chr14:19068668-19068669 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs570833384 | chr14:19068671-19068672 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs538287155 | chr14:19068687-19068688 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs556585848 | chr14:19068703-19068704 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs575217442 | chr14:19068736-19068737 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs28454336 | chr14:19068740-19068741 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs542493494 | chr14:19068748-19068749 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs554091742 | chr14:19068754-19068755 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs572565308 | chr14:19068762-19068763 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs138593602 | chr14:19068765-19068766 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs546064298 | chr14:19068766-19068767 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs112339319 | chr14:19068782-19068783 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs531302129 | chr14:19068787-19068788 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs543056341 | chr14:19068791-19068792 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs565495674 | chr14:19071804-19071805 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs28436579 | chr14:19071810-19071811 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs200316309 | chr14:19071822-19071823 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs28535161 | chr14:19071825-19071826 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs28649165 | chr14:19071827-19071828 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs533223784 | chr14:19071834-19071835 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs191085554 | chr14:19071846-19071847 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs551175471 | chr14:19071850-19071851 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs372802867 | chr14:19071853-19071854 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs201099927 | chr14:19071870-19071871 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs562622194 | chr14:19071872-19071873 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs183160929 | chr14:19071880-19071881 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs529790309 | chr14:19071881-19071882 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs559331863 | chr14:19071895-19071896 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs117694128 | chr14:19071913-19071914 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs187495648 | chr14:19071917-19071918 | ZNF genes & repeats | 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 |
Schizophrenia | 21399695 | 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 |
Hepatocellular carcinoma | 16750200 | CNVD |
Acute lymphoblastic leukemia | 17640729 | 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 |
Breast cancer | 22522925 | 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 |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr14:19068400-19068800 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
2 | chr14:19071800-19073400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
3 | chr14:19074000-19084000 | Weak transcription | Right Atrium | heart |
4 | chr14:19075600-19076000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr14:19076000-19077400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
6 | chr14:19077400-19077800 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
7 | chr14:19093000-19093200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
8 | chr14:19097000-19099000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
9 | chr14:19106800-19109600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
10 | chr14:19108000-19110000 | ZNF genes & repeats | Monocytes-CD14+_RO01746 | blood |
11 | chr14:19108200-19110200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
12 | chr14:19108800-19110200 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
13 | chr14:19108800-19110600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
14 | chr14:19109000-19110000 | ZNF genes & repeats | Foreskin Fibroblast Primary Cells skin01 | Skin |
15 | chr14:19109000-19110400 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
16 | chr14:19109200-19110200 | ZNF genes & repeats | Pancreas | Pancrea |
17 | chr14:19109400-19109600 | ZNF genes & repeats | Fetal Brain Female | brain |
18 | chr14:19109400-19110000 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
19 | chr14:19109400-19110000 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
20 | chr14:19115400-19116400 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
21 | chr14:19116000-19116200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
22 | chr14:19124000-19124200 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |