Variant report
Variant | nsv1008035 |
---|---|
Chromosome Location | chr3:118772939-118820645 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:16)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:16 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:55795723..55796346-chr3:118817504..118818179,2 | MCF-7 | breast: | |
2 | chr3:116489803..116490556-chr3:118816385..118817077,2 | K562 | blood: | |
3 | chr3:118601491..118603517-chr3:118818904..118820959,2 | MCF-7 | breast: | |
4 | chr3:118753444..118753993-chr3:118815481..118816221,2 | MCF-7 | breast: | |
5 | chr3:118601857..118602685-chr3:118817256..118818095,2 | MCF-7 | breast: | |
6 | chr3:118604102..118604821-chr3:118803607..118804317,2 | MCF-7 | breast: | |
7 | chr3:118600892..118601643-chr3:118803705..118804296,2 | K562 | blood: | |
8 | chr3:118781130..118783547-chr3:118786161..118788492,2 | K562 | blood: | |
9 | chr3:118781130..118783547-chr3:118786161..118788492,2 | K562 | blood: | |
10 | chr3:118780729..118783547-chr3:118785374..118787661,2 | K562 | blood: | |
11 | chr3:118603251..118604473-chr3:118817204..118818111,6 | K562 | blood: | |
12 | chr3:118603511..118604421-chr3:118817152..118818248,5 | MCF-7 | breast: | |
13 | chr3:118600918..118601876-chr3:118816856..118817797,3 | K562 | blood: | |
14 | chr3:118780729..118783547-chr3:118785374..118787661,2 | K562 | blood: | |
15 | chr3:118600900..118602263-chr3:118817111..118818102,7 | MCF-7 | breast: | |
16 | chr3:118603151..118604416-chr3:118816830..118818388,23 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000144847 | chromatin interactions |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs112300347 | chr3:118786838-118786839 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs182063798 | chr3:118786839-118786840 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs1347449 | chr3:118786845-118786846 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
4 | rs149338395 | chr3:118786852-118786853 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs80247556 | chr3:118786874-118786875 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs186363209 | chr3:118786897-118786898 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs551675955 | chr3:118786940-118786941 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs191154253 | chr3:118786949-118786950 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs146300997 | chr3:118786957-118786958 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs555079269 | chr3:118786977-118786978 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs558347912 | chr3:118787081-118787082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs116024249 | chr3:118787135-118787136 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs534447298 | chr3:118787261-118787262 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs575133757 | chr3:118787314-118787315 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs74448061 | chr3:118787398-118787399 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs180735571 | chr3:118787436-118787437 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs35511187 | chr3:118787453-118787454 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs577243709 | chr3:118787519-118787520 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs74573782 | chr3:118787568-118787569 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs552271636 | chr3:118792225-118792226 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
21 | rs570852639 | chr3:118792236-118792237 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs376017639 | chr3:118792237-118792238 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs376502534 | chr3:118792239-118792240 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs370902191 | chr3:118792268-118792269 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs556431602 | chr3:118792295-118792296 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs568214817 | chr3:118792297-118792298 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs145657438 | chr3:118792318-118792319 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs138194331 | chr3:118792320-118792321 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs572159370 | chr3:118792333-118792334 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs571050425 | chr3:118792350-118792351 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs557443570 | chr3:118792352-118792353 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs539639803 | chr3:118792359-118792360 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs576004994 | chr3:118792360-118792361 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs112967365 | chr3:118792364-118792365 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs112163292 | chr3:118792383-118792384 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs372560499 | chr3:118792396-118792397 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs79641870 | chr3:118792416-118792417 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs542006535 | chr3:118792439-118792440 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs560349135 | chr3:118792442-118792443 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs527762170 | chr3:118792459-118792460 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs552660804 | chr3:118792464-118792465 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs564284048 | chr3:118792466-118792467 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs191329328 | chr3:118792467-118792468 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs117233877 | chr3:118792470-118792471 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs568353834 | chr3:118792471-118792472 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs370371434 | chr3:118792519-118792520 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs2099487 | chr3:118792527-118792528 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs547595144 | chr3:118792528-118792529 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565891892 | chr3:118792529-118792530 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs138039514 | chr3:118792531-118792532 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Basal cell lymphoma | 17053054 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Retinoblastoma | 21504564 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 21183584 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Bipolar disorder | 20877625 | CNVD |
Bipolar disorder | 21956041 | CNVD |
Bipolar disorder | 22241247 | CNVD |
Biliary cancer | 18923514 | CNVD |
Prostate cancer | 21965145 | CNVD |
Cancer | 21129771 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Cervical cancer | 21062161 | CNVD |
Squamous cell cancer | 20885788 | CNVD |
Melanoma | 18172304 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Bipolar disorder | 18458673 | CNVD |
Breast cancer | 22032731 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Breast cancer | 16461572 | CNVD |
Neuroblastoma | 17533364 | CNVD |
microdeletion syndrome | 22180640 | CNVD |
Cervical Cancer | 21857958 | CNVD |
Melanoma | 21693616 | CNVD |
Lung cancer | 21426551 | CNVD |
Cancer | 21637783 | CNVD |
Cervical cancer | 21063398 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oral cancer | 21386901 | CNVD |
Renal cell carcinoma | 19461508 | CNVD |
Cancer | 22065749 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Acute lymphoblastic leukemia | 21339820 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 16608533 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Developmental delay | 22180640 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Basal cell lymphoma | 21115979 | CNVD |
Ovarian cancer | 22174824 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Characteristic facial feature | 22180640 | CNVD |
hypoplastic male genitals | 22180640 | CNVD |
postnatal overgrowth | 22180640 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Cancer | 20164920 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:118786800-118787600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr3:118792200-118792800 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr3:118792200-118792800 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr3:118792400-118792800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
5 | chr3:118800000-118800400 | Enhancers | Brain Germinal Matrix | brain |
6 | chr3:118803000-118805400 | Enhancers | A549 | lung |
7 | chr3:118803400-118804200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
8 | chr3:118803600-118804000 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr3:118803600-118804000 | Enhancers | HMEC | breast |
10 | chr3:118812000-118812600 | Enhancers | A549 | lung |
11 | chr3:118812400-118813000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
12 | chr3:118812600-118817400 | Weak transcription | A549 | lung |
13 | chr3:118817400-118819400 | Enhancers | A549 | lung |
14 | chr3:118818600-118819200 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
15 | chr3:118819400-118820400 | Weak transcription | A549 | lung |