Variant report
Variant | nsv947487 |
---|---|
Chromosome Location | chr1:47460133-47469076 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:185)
- CpG islands (count:61)
- Chromatin interactive region (count:3)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:47469065-47469115 | K562 | blood: | n/a |
2 | chr1:47469065-47469115 | AG04449 | skin: | fetal |
3 | chr1:47469065-47469115 | HRPEpiC | eye: | n/a |
4 | chr1:47469065-47469115 | MCF-7 | breast: | n/a |
5 | chr1:47469065-47469115 | Hela-S3 | cervix: | n/a |
6 | chr1:47469065-47469115 | HEEpiC | esophagus: | n/a |
7 | chr1:47469065-47469115 | ovcar-3 | ovarian: | n/a |
8 | chr1:47469065-47469115 | SK-N-MC | brain: | n/a |
9 | chr1:47469065-47469115 | HL-60 | blood: | n/a |
10 | chr1:47469065-47469115 | HAEpiC | amniotic membrane: | n/a |
11 | chr1:47469065-47469115 | HEK293 | kidney: | embryo |
12 | chr1:47469065-47469115 | U87 | brain: | n/a |
13 | chr1:47469065-47469115 | GM12891 | blood: | n/a |
14 | chr1:47469065-47469115 | IMR90 | lung: | fetal |
15 | chr1:47469065-47469115 | AG09319 | gingival: | n/a |
16 | chr1:47469065-47469115 | HRCEpiC | kidney: | n/a |
17 | chr1:47469065-47469115 | ProgFib | skin: | n/a |
18 | chr1:47469065-47469115 | AG04450 | lung: | fetal |
19 | chr1:47469065-47469115 | NB4 | blood: | n/a |
20 | chr1:47469065-47469115 | Caco-2 | colon: | n/a |
21 | chr1:47469065-47469115 | BJ | skin: | n/a |
22 | chr1:47469065-47469115 | AoSMC | blood vessel: | n/a |
23 | chr1:47469065-47469115 | NHBE | bronchial: | n/a |
24 | chr1:47469065-47469115 | AG10803 | skin: | n/a |
25 | chr1:47469065-47469115 | BE2_C | brain: | n/a |
26 | chr1:47469065-47469115 | NHDF-neo | bronchial: | n/a |
27 | chr1:47469065-47469115 | AG09309 | skin: | n/a |
28 | chr1:47469065-47469115 | PANC-1 | pancreas: | n/a |
29 | chr1:47469065-47469115 | HCT-116 | colon: | n/a |
30 | chr1:47469065-47469115 | Hepatocyte | liver: | n/a |
31 | chr1:47469065-47469115 | NH-A | brain: | n/a |
32 | chr1:47469065-47469115 | HCM | heart: | n/a |
33 | chr1:47469065-47469115 | LNCaP | prostate: | n/a |
34 | chr1:47469065-47469115 | T-47D | breast: | n/a |
35 | chr1:47469065-47469115 | CMK | blood: | n/a |
36 | chr1:47469065-47469115 | HCF | heart: | n/a |
37 | chr1:47469065-47469115 | HIPEpiC | eye: | n/a |
38 | chr1:47469065-47469115 | HNPCEpiC | eye: | n/a |
39 | chr1:47469065-47469115 | SKMC | muscle: | n/a |
40 | chr1:47469065-47469115 | NT2-D1 | testis: | n/a |
41 | chr1:47469065-47469115 | Jurkat | blood: | n/a |
42 | chr1:47469065-47469115 | SAEC | small airway: | n/a |
43 | chr1:47469065-47469115 | RPTEC | kidney: | n/a |
44 | chr1:47469065-47469115 | ECC-1 | luminal epithelium: | n/a |
45 | chr1:47469065-47469115 | MCF10A-Er-Src | breast: | n/a |
46 | chr1:47469065-47469115 | H1-hESC | embryonic stem cell: | embryo |
47 | chr1:47469065-47469115 | GM06990 | blood: | n/a |
48 | chr1:47469065-47469115 | HUVEC | blood vessel: | n/a |
49 | chr1:47469065-47469115 | GM19239 | blood: | n/a |
50 | chr1:47469065-47469115 | HepG2 | liver: | n/a |
(count:3 , 50 per page) page:
1
(count:1 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-CYP4A11-2 | chr1:47468777-47469021 | expReg_chr1_7623_- |
No data |
No data |
Variant related genes | Relation type |
---|---|
CYP4A44P | TF binding region |
CYP4A27P | TF binding region |
CYP4A43P | TF binding region |
CYP4A44P | CpG island |
CYP4A27P | CpG island |
CYP4A43P | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs377546520 | chr1:47460158-47460159 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs141128827 | chr1:47460178-47460179 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs563958464 | chr1:47460187-47460188 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs189298324 | chr1:47460192-47460193 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs561029714 | chr1:47460223-47460224 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs12063239 | chr1:47460226-47460227 | Weak transcription | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs528675253 | chr1:47460296-47460297 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs115914264 | chr1:47460299-47460300 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs561597164 | chr1:47460303-47460304 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs180957602 | chr1:47460345-47460346 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs74072457 | chr1:47460351-47460352 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs543022564 | chr1:47460362-47460363 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs138242816 | chr1:47460383-47460384 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs186174927 | chr1:47460417-47460418 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs141883640 | chr1:47460430-47460431 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs75446126 | chr1:47460439-47460440 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs548397182 | chr1:47460454-47460455 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs540783941 | chr1:47460456-47460457 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs150229342 | chr1:47460467-47460468 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs534722675 | chr1:47460507-47460508 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs552831524 | chr1:47460515-47460516 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs571314565 | chr1:47460516-47460517 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs138889785 | chr1:47460529-47460530 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs556979425 | chr1:47460530-47460531 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs80136184 | chr1:47460532-47460533 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs532469437 | chr1:47460545-47460546 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs552182209 | chr1:47460594-47460595 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs74072459 | chr1:47460671-47460672 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs572995874 | chr1:47460730-47460731 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs201466627 | chr1:47460733-47460734 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs540420467 | chr1:47460735-47460736 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs548012378 | chr1:47460793-47460794 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs565263608 | chr1:47460817-47460818 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs5773933 | chr1:47460860-47460861 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs397690381 | chr1:47460865-47460866 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs397687288 | chr1:47460866-47460867 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs577252787 | chr1:47460869-47460870 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs531697557 | chr1:47460900-47460901 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs544297908 | chr1:47460901-47460902 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs561784860 | chr1:47460916-47460917 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs372045164 | chr1:47460980-47460981 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs188593434 | chr1:47460987-47460988 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs181537392 | chr1:47461094-47461095 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs560402339 | chr1:47461166-47461167 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs527923683 | chr1:47461168-47461169 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs186056903 | chr1:47461206-47461207 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs548210017 | chr1:47461264-47461265 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs147512050 | chr1:47461287-47461288 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs552045786 | chr1:47461288-47461289 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs111626055 | chr1:47461292-47461293 | Weak transcription | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Glioblastoma multiforme | 21080181 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 17603634 | CNVD |
Soft tissue tumor | 16732325 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Coronary Disease | 20032323 | CNVD |
Prostate cancer | 21965145 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Stargardt''s disease | 17277736 | CNVD |
Neuroblastoma | 17897457 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Neuroblastoma | 21484798 | CNVD |
Non-syndromic sensorineural hearing loss | 22290220 | CNVD |
Liposarcoma | 21253554 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute myeloid leukemia | 16864856 | CNVD |
Astrocytoma | 17387387 | CNVD |
Cancer | 21499728 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Neuroblastoma | 17535989 | CNVD |
Pheochromocytoma | 17535989 | CNVD |
Prostate cancer | 16705090 | CNVD |
Astrocytoma | 17934521 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Neuroblastoma | 18664255 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Gastrointestinal stromal cancer | 19259404 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Non-syndromic sensorineural hearing loss | 21030649 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Chronic myeloid leukemia | 21384125 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 22495311 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Gastrointestinal stromal cancer | 16982739 | CNVD |
Chordoma | 21602918 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Melanoma | 18172304 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Melanoma | 17363583 | CNVD |
Cancer | 21129771 | CNVD |
Autosomal dominant nocturnal frontal lobe epilepsy | 18472482 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-small cell lung cancer | 20864512 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Thrombocytopenia-absent radius syndrome | 21933853 | CNVD |
Psychiatric disorder | 22848183 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Breast cancer | 20409316 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Lung cancer | 18438408 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17393978 | CNVD |
Cervical cancer | 21062161 | CNVD |
Cancer | 21183584 | CNVD |
Muscle-eye-brain disease | 21572526 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelofibrosis | 22110671 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 21364760 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Uveal melanoma | 20484589 | CNVD |
Malignant fibrous histiocytomas | 21085701 | CNVD |
Glioblastoma | 20031968 | CNVD |
Leukemia | 18688285 | CNVD |
Rett syndrome | 21593744 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 22522925 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Adenocarcinoma | 19001599 | CNVD |
Non-small cell lung cancer | 19001599 | CNVD |
Squamous cell cancer | 19001599 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:47457400-47465800 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
2 | chr1:47463800-47464600 | Weak transcription | H1 Cell Line | embryonic stem cell |
3 | chr1:47464600-47464800 | Enhancers | H1 Cell Line | embryonic stem cell |
4 | chr1:47464600-47466000 | Enhancers | HUES48 Cell Line | embryonic stem cell |
5 | chr1:47464800-47465600 | Weak transcription | H1 Cell Line | embryonic stem cell |
6 | chr1:47464800-47466000 | Enhancers | iPS-18 Cell Line | embryonic stem cell |
7 | chr1:47465600-47466000 | Enhancers | H1 Cell Line | embryonic stem cell |
8 | chr1:47465800-47466000 | Enhancers | iPS-15b Cell Line | embryonic stem cell |