Variant report
Variant | nsv605348 |
---|---|
Chromosome Location | chr6:167799246-167802661 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:115)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | BATF | chr6:167801477-167801674 | GM12878 | blood: | n/a | n/a |
2 | BCL11A | chr6:167799353-167799569 | GM12878 | blood: | n/a | n/a |
3 | BCL11A | chr6:167801472-167801775 | GM12878 | blood: | n/a | n/a |
4 | BCL11A | chr6:167800632-167800815 | GM12878 | blood: | n/a | n/a |
5 | BCL11A | chr6:167801917-167802109 | GM12878 | blood: | n/a | n/a |
6 | BCL11A | chr6:167801474-167801790 | GM12878 | blood: | n/a | n/a |
7 | CBX3 | chr6:167800537-167800803 | K562 | blood: | n/a | n/a |
8 | EBF1 | chr6:167800633-167800823 | GM12878 | blood: | n/a | n/a |
9 | EBF1 | chr6:167800374-167800567 | GM12878 | blood: | n/a | n/a |
10 | EBF1 | chr6:167801477-167801660 | GM12878 | blood: | n/a | n/a |
11 | EBF1 | chr6:167799317-167799670 | GM12878 | blood: | n/a | n/a |
12 | EP300 | chr6:167800291-167802181 | GM12878 | blood: | n/a | n/a |
13 | EP300 | chr6:167801483-167801753 | GM12878 | blood: | n/a | n/a |
14 | EP300 | chr6:167801907-167802072 | GM12878 | blood: | n/a | n/a |
15 | EP300 | chr6:167799221-167799724 | GM12878 | blood: | n/a | n/a |
16 | EP300 | chr6:167799436-167799593 | GM12878 | blood: | n/a | n/a |
17 | FOSL2 | chr6:167799343-167799781 | HepG2 | liver: | n/a | n/a |
18 | FOSL2 | chr6:167799201-167799903 | HepG2 | liver: | n/a | n/a |
19 | FOSL2 | chr6:167801435-167801780 | HepG2 | liver: | n/a | n/a |
20 | FOSL2 | chr6:167799990-167802190 | HepG2 | liver: | n/a | n/a |
21 | GATA2 | chr6:167800336-167801088 | K562 | blood: | n/a | n/a |
22 | GATA2 | chr6:167799305-167799604 | K562 | blood: | n/a | n/a |
23 | GATA2 | chr6:167801141-167801746 | K562 | blood: | n/a | n/a |
24 | GATA2 | chr6:167801829-167802081 | K562 | blood: | n/a | n/a |
25 | IRF4 | chr6:167800248-167802238 | GM12878 | blood: | n/a | n/a |
26 | IRF4 | chr6:167800250-167801181 | GM12878 | blood: | n/a | n/a |
27 | IRF4 | chr6:167799155-167799811 | GM12878 | blood: | n/a | n/a |
28 | IRF4 | chr6:167799180-167799764 | GM12878 | blood: | n/a | n/a |
29 | IRF4 | chr6:167801363-167802115 | GM12878 | blood: | n/a | n/a |
30 | JUND | chr6:167799232-167799833 | HepG2 | liver: | n/a | n/a |
31 | JUND | chr6:167800308-167802241 | HepG2 | liver: | n/a | n/a |
32 | JUND | chr6:167799388-167799609 | HepG2 | liver: | n/a | n/a |
33 | JUND | chr6:167800001-167800165 | HepG2 | liver: | n/a | n/a |
34 | JUND | chr6:167801970-167802128 | HepG2 | liver: | n/a | n/a |
35 | JUND | chr6:167800594-167800754 | HepG2 | liver: | n/a | n/a |
36 | PAX5 | chr6:167800036-167800225 | GM12878 | blood: | n/a | n/a |
37 | PAX5 | chr6:167801337-167801759 | GM12878 | blood: | n/a | n/a |
38 | PAX5 | chr6:167799206-167799795 | GM12878 | blood: | n/a | n/a |
39 | PAX5 | chr6:167800291-167802345 | GM12878 | blood: | n/a | n/a |
40 | PAX5 | chr6:167799251-167799671 | GM12878 | blood: | n/a | n/a |
41 | PAX5 | chr6:167799951-167802295 | GM12878 | blood: | n/a | n/a |
42 | PAX5 | chr6:167799252-167799665 | GM12878 | blood: | n/a | n/a |
43 | PAX5 | chr6:167800294-167800874 | GM12878 | blood: | n/a | n/a |
44 | PBX3 | chr6:167800594-167800714 | GM12878 | blood: | n/a | n/a |
45 | POU2F2 | chr6:167799990-167802490 | GM12878 | blood: | n/a | n/a |
46 | POU2F2 | chr6:167799173-167799870 | GM12878 | blood: | n/a | n/a |
47 | RXRA | chr6:167800593-167800841 | HepG2 | liver: | n/a | n/a |
48 | RXRA | chr6:167799277-167799573 | HepG2 | liver: | n/a | n/a |
49 | RXRA | chr6:167801406-167801649 | HepG2 | liver: | n/a | n/a |
50 | RXRA | chr6:167800293-167800588 | HepG2 | liver: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
TCP10 | TF binding region |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs528572288 | chr6:167799247-167799248 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs181994829 | chr6:167799266-167799267 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs370689273 | chr6:167799273-167799274 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs201895122 | chr6:167799281-167799282 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs200098248 | chr6:167799299-167799300 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs62647357 | chr6:167799307-167799308 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs368512627 | chr6:167799328-167799329 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs535463450 | chr6:167799336-167799337 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs372749560 | chr6:167799341-167799342 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs537141358 | chr6:167799352-167799353 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs552214630 | chr6:167799365-167799366 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs570617382 | chr6:167799383-167799384 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs375768494 | chr6:167799398-167799399 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs62647358 | chr6:167799401-167799402 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs184097163 | chr6:167799427-167799428 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs62647359 | chr6:167799431-167799432 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs534673159 | chr6:167799435-167799436 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs369193937 | chr6:167799482-167799483 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs188979651 | chr6:167799500-167799501 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs372685678 | chr6:167799505-167799506 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs372781802 | chr6:167799519-167799520 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs202152754 | chr6:167799527-167799528 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs557905194 | chr6:167799534-167799535 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs375797469 | chr6:167799535-167799536 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs62647860 | chr6:167799536-167799537 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs201073344 | chr6:167799537-167799538 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs553365695 | chr6:167799543-167799544 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs201567053 | chr6:167799549-167799550 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs572221968 | chr6:167799556-167799557 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs138916878 | chr6:167799558-167799559 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs369373955 | chr6:167799566-167799567 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs141288619 | chr6:167799577-167799578 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs372822300 | chr6:167799596-167799597 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs536594164 | chr6:167799598-167799599 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs201402529 | chr6:167799629-167799630 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs200102641 | chr6:167799653-167799654 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs376536597 | chr6:167799654-167799655 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs111218730 | chr6:167799665-167799666 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs371979579 | chr6:167799676-167799677 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs201176525 | chr6:167799691-167799692 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs186343264 | chr6:167799703-167799704 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs554794699 | chr6:167799708-167799709 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs376246783 | chr6:167799727-167799728 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs200351188 | chr6:167799747-167799748 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs375167791 | chr6:167799749-167799750 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs576263923 | chr6:167799795-167799796 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
47 | rs369524509 | chr6:167799796-167799797 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
48 | rs373016130 | chr6:167799808-167799809 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
49 | rs376513563 | chr6:167799820-167799821 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
50 | rs369879494 | chr6:167799838-167799839 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Ependymoma | 16718352 | CNVD |
Gastric cancer | 17908304 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 16272173 | CNVD |
Wilms tumour | 21544195 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Breast cancer | 21858162 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Breast cancer | 17603634 | CNVD |
Developmental delay | 19490664 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
head and neck squamous cell carcinoma | 17671120 | CNVD |
Leukemia | 18688285 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Prostate cancer | 18632612 | CNVD |
Lung cancer | 18438408 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Esophageal cancer | 21851588 | CNVD |
T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
Breast cancer | 17133270 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Chordoma | 18071362 | CNVD |
Glioblastoma multiforme | 19435819 | CNVD |
Developmental delay | 21147756 | CNVD |
Ovarian cancer | 21720365 | CNVD |
abnormal development | 18461090 | CNVD |
Epilepsy | 22083797 | CNVD |
Myelofibrosis | 22110671 | CNVD |
chordoma | 19801981 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Autism | 17483303 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Acute myeloid leukemia | 19651601 | CNVD |
Sudden cardiac death | 19188705 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |