Variant report
Variant | nsv948328 |
---|---|
Chromosome Location | chr10:43062306-43070725 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:9)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:9 , 50 per page) page:
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No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | CTCF | chr10:43062280-43062430 | HepG2 | liver: | n/a | n/a |
2 | KAP1 | chr10:43065961-43066152 | HEK293 | kidney: | n/a | n/a |
3 | SPI1 | chr10:43069764-43070122 | HL-60 | blood: | n/a | n/a |
4 | SPI1 | chr10:43069854-43070128 | K562 | blood: | n/a | n/a |
5 | SPI1 | chr10:43069750-43070224 | HL-60 | blood: | n/a | n/a |
6 | SPI1 | chr10:43069874-43070104 | K562 | blood: | n/a | n/a |
7 | SPI1 | chr10:43069890-43070147 | GM12878 | blood: | n/a | n/a |
8 | SPI1 | chr10:43069813-43070088 | GM12891 | blood: | n/a | n/a |
9 | SRF | chr10:43062519-43062610 | GM12878 | blood: | n/a | n/a |
No data |
No data |
(count:1 , 50 per page) page:
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-ZNF33B-3 | chr10:43069633-43070126 | ENSG00000272373.1 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000272319 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs529974910 | chr10:43068603-43068604 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs548601620 | chr10:43068725-43068726 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs560514150 | chr10:43068751-43068752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs527747523 | chr10:43068762-43068763 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs146354222 | chr10:43068776-43068777 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs1855448 | chr10:43068841-43068842 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
7 | rs538449624 | chr10:43068884-43068885 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs550142922 | chr10:43068916-43068917 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs529788040 | chr10:43068930-43068931 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs568714350 | chr10:43069001-43069002 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs534268623 | chr10:43069027-43069028 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs189852730 | chr10:43069035-43069036 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs572513249 | chr10:43069039-43069040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs1855449 | chr10:43069052-43069053 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
15 | rs182652320 | chr10:43069071-43069072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs138805490 | chr10:43069104-43069105 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs187307169 | chr10:43069117-43069118 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs149365715 | chr10:43069137-43069138 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs574778317 | chr10:43069138-43069139 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs542156631 | chr10:43069159-43069160 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs143771489 | chr10:43069168-43069169 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs529122094 | chr10:43069190-43069191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs193066306 | chr10:43069193-43069194 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs552670597 | chr10:43069272-43069273 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs115156294 | chr10:43069282-43069283 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs148133159 | chr10:43069323-43069324 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs374958201 | chr10:43069338-43069339 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs11239682 | chr10:43069364-43069365 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
29 | rs183320910 | chr10:43069372-43069373 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs12220412 | chr10:43069605-43069606 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
31 | rs35795773 | chr10:43069613-43069614 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs546739762 | chr10:43069614-43069615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs71533028 | chr10:43069631-43069632 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs549471198 | chr10:43069650-43069651 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
35 | rs542117863 | chr10:43069651-43069652 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
36 | rs554123919 | chr10:43069694-43069695 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
37 | rs3740327 | chr10:43069726-43069727 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
38 | rs546157432 | chr10:43069731-43069732 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
39 | rs564370719 | chr10:43069800-43069801 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
40 | rs3740328 | chr10:43069841-43069842 | Enhancers | lncRNA | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs543561885 | chr10:43069858-43069859 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
42 | rs547189262 | chr10:43069859-43069860 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
43 | rs373423646 | chr10:43069888-43069889 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
44 | rs188731967 | chr10:43069896-43069897 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
45 | rs547647477 | chr10:43069914-43069915 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
46 | rs369771437 | chr10:43069921-43069922 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
47 | rs78043485 | chr10:43069947-43069948 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
48 | rs193026150 | chr10:43069949-43069950 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
49 | rs533471641 | chr10:43069986-43069987 | Enhancers | lncRNA | n/a | Overlapped CNVs | n/a |
50 | rs552143561 | chr10:43070077-43070078 | Inactive region | lncRNA | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Melanoma | 18172304 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Lung cancer | 18438408 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 18632612 | CNVD |
Autism | 18414403 | CNVD |
Cockayne syndrome | 18421352 | CNVD |
Glioblastoma | 16823260 | CNVD |
Medulloblastoma | 16968546 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Mental retardation | 21062444 | CNVD |
Cancer | 21183584 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Squamous cell cancer | 21044232 | CNVD |
Glioma | 21971842 | CNVD |
Cancer | 21637783 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 21364760 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Schizophrenia | 22241247 | CNVD |
Intellectual disability | 21811512 | CNVD |
Papillary thyroid carcinoma | 21436994 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
Obesity | 21956041 | CNVD |
Lung cancer | 21569311 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Breast cancer | 21785460 | CNVD |
Autism | 20531469 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:43068600-43069400 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
2 | chr10:43068800-43069400 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
3 | chr10:43069600-43070000 | Enhancers | Primary B cells from peripheral blood | blood |