Variant report
Variant | nsv145 |
---|---|
Chromosome Location | chr16:34423094-34475651 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:260)
- CpG islands (count:1281)
- Chromatin interactive region (count:2)
- LncRNA region (count:5)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr16:34432979-34433029 | PFSK-1 | brain: | n/a |
2 | chr16:34442373-34442423 | Hepatocyte | liver: | n/a |
3 | chr16:34430837-34430887 | PFSK-1 | brain: | n/a |
4 | chr16:34430837-34430887 | HRCEpiC | kidney: | n/a |
5 | chr16:34430382-34430432 | NH-A | brain: | n/a |
6 | chr16:34429930-34429980 | LNCaP | prostate: | n/a |
7 | chr16:34442373-34442423 | PrEC | prostate: | n/a |
8 | chr16:34429609-34429659 | GM12892 | blood: | n/a |
9 | chr16:34439811-34439861 | SKMC | muscle: | n/a |
10 | chr16:34431003-34431053 | PrEC | prostate: | n/a |
11 | chr16:34443120-34443170 | SK-N-MC | brain: | n/a |
12 | chr16:34428985-34429035 | AG09319 | gingival: | n/a |
13 | chr16:34442283-34442333 | HIPEpiC | eye: | n/a |
14 | chr16:34442090-34442140 | IMR90 | lung: | fetal |
15 | chr16:34445785-34445835 | LNCaP | prostate: | n/a |
16 | chr16:34439811-34439861 | Hepatocyte | liver: | n/a |
17 | chr16:34443120-34443170 | RPTEC | kidney: | n/a |
18 | chr16:34430078-34430128 | GM19239 | blood: | n/a |
19 | chr16:34431003-34431053 | CMK | blood: | n/a |
20 | chr16:34456429-34456479 | SK-N-SH_RA | brain: | n/a |
21 | chr16:34456429-34456479 | Hela-S3 | cervix: | n/a |
22 | chr16:34441787-34441837 | HUVEC | blood vessel: | n/a |
23 | chr16:34428061-34428111 | HL-60 | blood: | n/a |
24 | chr16:34442283-34442333 | ProgFib | skin: | n/a |
25 | chr16:34430837-34430887 | HMEC | breast: | n/a |
26 | chr16:34428061-34428111 | SKMC | muscle: | n/a |
27 | chr16:34441787-34441837 | AoSMC | blood vessel: | n/a |
28 | chr16:34428061-34428111 | H1-hESC | embryonic stem cell: | embryo |
29 | chr16:34439811-34439861 | AoSMC | blood vessel: | n/a |
30 | chr16:34430905-34430955 | MCF10A-Er-Src | breast: | n/a |
31 | chr16:34429609-34429659 | GM06990 | blood: | n/a |
32 | chr16:34443612-34443662 | Caco-2 | colon: | n/a |
33 | chr16:34428985-34429035 | NHBE | bronchial: | n/a |
34 | chr16:34430078-34430128 | HEK293 | kidney: | embryo |
35 | chr16:34428985-34429035 | NT2-D1 | testis: | n/a |
36 | chr16:34429930-34429980 | NHBE | bronchial: | n/a |
37 | chr16:34442283-34442333 | HAEpiC | amniotic membrane: | n/a |
38 | chr16:34443612-34443662 | RPTEC | kidney: | n/a |
39 | chr16:34443612-34443662 | AG09309 | skin: | n/a |
40 | chr16:34456419-34456469 | Jurkat | blood: | n/a |
41 | chr16:34445785-34445835 | HCF | heart: | n/a |
42 | chr16:34429930-34429980 | SK-N-SH | brain: | n/a |
43 | chr16:34428061-34428111 | NH-A | brain: | n/a |
44 | chr16:34439811-34439861 | GM12878 | blood: | n/a |
45 | chr16:34430837-34430887 | HepG2 | liver: | n/a |
46 | chr16:34430078-34430128 | ovcar-3 | ovarian: | n/a |
47 | chr16:34442602-34442652 | GM12878 | blood: | n/a |
48 | chr16:34456419-34456469 | ovcar-3 | ovarian: | n/a |
49 | chr16:34430382-34430432 | HMEC | breast: | n/a |
50 | chr16:34443612-34443662 | AG10803 | skin: | n/a |
(count:2 , 50 per page) page:
1
(count:5 , 50 per page) page:
1
No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-LINC00273-18 | chr16:34455954-34456419 | NONHSAT142168 |
2 | lnc-CTD-2144E22.5.1-5 | chr16:34442330-34442392 | ENSG00000260958.2 |
3 | lnc-CTD-2144E22.5.1-17 | chr16:34427706-34428105 | NONHSAT142163 |
4 | lnc-CTD-2144E22.5.1-5 | chr16:34471671-34474425 | NONHSAT142170 |
5 | lnc-CTD-2144E22.5.1-5 | chr16:34442308-34442392 | ENSG00000260958.2 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000260073 | TF binding region |
ENSG00000264479 | TF binding region |
ENSG00000261398 | TF binding region |
ENSG00000260958 | TF binding region |
RARRES2P5 | TF binding region |
ENSG00000260590 | TF binding region |
ENSG00000261274 | TF binding region |
FGFR3P5 | TF binding region |
ENSG00000260073 | CpG island |
ENSG00000264479 | CpG island |
ENSG00000261398 | CpG island |
ENSG00000260958 | CpG island |
RARRES2P5 | CpG island |
ENSG00000260590 | CpG island |
ENSG00000261274 | CpG island |
FGFR3P5 | CpG island |
ENSG00000260073 | chromatin interactions |
ENSG00000261398 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs541508849 | chr16:34423118-34423119 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs8047472 | chr16:34423141-34423142 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs112988421 | chr16:34423150-34423151 | Enhancers | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs187361402 | chr16:34423202-34423203 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs564367317 | chr16:34423243-34423244 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs531411601 | chr16:34423259-34423260 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs140768978 | chr16:34423260-34423261 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs561721760 | chr16:34423271-34423272 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs530249772 | chr16:34423312-34423313 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs548676978 | chr16:34423339-34423340 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs189990540 | chr16:34423400-34423401 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs527651854 | chr16:34423450-34423451 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs143121732 | chr16:34423508-34423509 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs182193786 | chr16:34423528-34423529 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs538149693 | chr16:34423542-34423543 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs147494641 | chr16:34424572-34424573 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs555701974 | chr16:34425321-34425322 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
18 | rs193144445 | chr16:34425383-34425384 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
19 | rs567611107 | chr16:34425495-34425496 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
20 | rs534900113 | chr16:34425512-34425513 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
21 | rs74015865 | chr16:34425516-34425517 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
22 | rs577884288 | chr16:34425527-34425528 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
23 | rs546295540 | chr16:34425528-34425529 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
24 | rs117224058 | chr16:34425548-34425549 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
25 | rs560606953 | chr16:34425593-34425594 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
26 | rs185712524 | chr16:34425599-34425600 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
27 | rs187699550 | chr16:34425664-34425665 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
28 | rs188005354 | chr16:34426243-34426244 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
29 | rs563896124 | chr16:34426938-34426939 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
30 | rs551053600 | chr16:34426957-34426958 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
31 | rs530549294 | chr16:34426986-34426987 | Inactive region | TF binding region | 2 gene(s) | Overlapped CNVs | n/a |
32 | rs35261086 | chr16:34427712-34427713 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
33 | rs575761107 | chr16:34427731-34427732 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
34 | rs542753604 | chr16:34427788-34427789 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs560919812 | chr16:34427792-34427793 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs528193317 | chr16:34427805-34427806 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs189662031 | chr16:34427813-34427814 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
38 | rs564883064 | chr16:34427849-34427850 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs143454295 | chr16:34427891-34427892 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs550821761 | chr16:34427893-34427894 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
41 | rs375580376 | chr16:34427910-34427911 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs207475859 | chr16:34427996-34427997 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs568970991 | chr16:34428028-34428029 | Inactive region | TF binding regionlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs148159706 | chr16:34428059-34428060 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs142011298 | chr16:34428062-34428063 | Inactive region | CpG islandlncRNA | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs573450133 | chr16:34428986-34428987 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs147476900 | chr16:34428993-34428994 | Inactive region | CpG island | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs11149539 | chr16:34429019-34429020 | Inactive region | CpG island | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
49 | rs541699603 | chr16:34429204-34429205 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs377751808 | chr16:34429222-34429223 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17133270 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Lung adenocarcinoma | 17086460 | CNVD |
Lung cancer | 17086460 | CNVD |
Autism | 22566537 | CNVD |
Intellectual disability | 22566537 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 17603634 | CNVD |
Breast cancer | 21264507 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Autism | 19415332 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
Schizophrenia | 22958593 | CNVD |
Ductal carcinoma | 22052326 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Breast cancer | 21858162 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Breast cancer | 21785460 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Benign familial neonatal-infantile seizures | 21060786 | CNVD |
Low-grade fibromyxoid sarcoma | 0 | CNVD |
Cancer | 21183584 | CNVD |
Disorders of sex development | 21048976 | CNVD |
Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
Breast cancer | 21045282 | CNVD |
Neuroblastoma | 20406844 | CNVD |
Autism | 19050728 | CNVD |
Epilepsy | 20923578 | CNVD |
Psychiatric disorder | 19050728 | CNVD |
Schizophrenia | 19348701 | CNVD |
Attention deficit hyperactivity disorder | 19097825 | CNVD |
Autism | 20964600 | CNVD |
Schizophrenia | 19955444 | CNVD |
Schizophrenia | 18990708 | CNVD |
Schizophrenia | 19571808 | CNVD |
Breast cancer | 20409316 | CNVD |
Severe combined immunodeficiency | 19097825 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Autism | 18522746 | CNVD |
Wilms tumour | 21544195 | CNVD |
Cancer | 20164920 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Breast cancer | 21364760 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
Lung cancer | 18438408 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Breast cancer | 21509527 | CNVD |
Schizophrenia | 20967226 | CNVD |
Williams Syndrome | 20824207 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Schizophrenia | 23813976 | CNVD |
Bipolar disorder | 19214233 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Rett syndrome | 21593744 | CNVD |
Myelofibrosis | 22110671 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:34423000-34423200 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr16:34429200-34433000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr16:34429400-34429600 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
4 | chr16:34429400-34430400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
5 | chr16:34432200-34433400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
6 | chr16:34437400-34438400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
7 | chr16:34438400-34441200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
8 | chr16:34441200-34442800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
9 | chr16:34441400-34442600 | Bivalent/Poised TSS | ES-I3 Cell Line | embryonic stem cell |
10 | chr16:34442000-34443200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
11 | chr16:34442200-34443000 | Active TSS | ES-WA7 Cell Line | embryonic stem cell |
12 | chr16:34442200-34443000 | ZNF genes & repeats | Foreskin Melanocyte Primary Cells skin01 | Skin |
13 | chr16:34442600-34442800 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
14 | chr16:34456000-34456800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
15 | chr16:34456200-34456400 | ZNF genes & repeats | Gastric | stomach |
16 | chr16:34456200-34456600 | Active TSS | H1 Derived Mesenchymal Stem Cells | ES cell derived |
17 | chr16:34465600-34466200 | Active TSS | ES-I3 Cell Line | embryonic stem cell |
18 | chr16:34465600-34466200 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
19 | chr16:34466600-34472200 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
20 | chr16:34466800-34467000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
21 | chr16:34466800-34469400 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
22 | chr16:34467000-34468200 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
23 | chr16:34467000-34470200 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
24 | chr16:34468200-34469400 | ZNF genes & repeats | Brain Germinal Matrix | brain |
25 | chr16:34474800-34476000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |