Variant report
Variant | nsv581511 |
---|---|
Chromosome Location | chr2:40839418-40863036 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:54)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:1)
- 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 | CEBPB | chr2:40853015-40853457 | IMR90 | lung: | n/a | n/a |
2 | CTCF | chr2:40843055-40843124 | Kidney_OC | kidney: | n/a | n/a |
3 | EP300 | chr2:40853241-40853243 | GM12878 | blood: | n/a | n/a |
4 | EP300 | chr2:40843652-40844316 | SK-N-SH | brain: | n/a | n/a |
5 | FOS | chr2:40852992-40853476 | MCF10A-Er-Src | breast: | n/a | chr2:40853169-40853180 chr2:40853215-40853227 chr2:40853217-40853225 |
6 | FOS | chr2:40853013-40853377 | MCF10A-Er-Src | breast: | n/a | chr2:40853169-40853180 chr2:40853215-40853227 chr2:40853217-40853225 |
7 | FOS | chr2:40853018-40853306 | HUVEC | blood vessel: | n/a | chr2:40853169-40853180 chr2:40853215-40853227 chr2:40853217-40853225 |
8 | FOS | chr2:40852992-40853412 | MCF10A-Er-Src | breast: | n/a | chr2:40853169-40853180 chr2:40853215-40853227 chr2:40853217-40853225 |
9 | FOS | chr2:40852959-40853404 | MCF10A-Er-Src | breast: | n/a | chr2:40853169-40853180 chr2:40853215-40853227 chr2:40853217-40853225 |
10 | GATA2 | chr2:40843913-40844188 | SH-SY5Y | brain: | n/a | n/a |
11 | GATA3 | chr2:40849087-40849399 | SH-SY5Y | brain: | n/a | n/a |
12 | GATA3 | chr2:40843791-40844144 | SH-SY5Y | brain: | n/a | chr2:40843893-40843902 chr2:40843892-40843902 chr2:40843893-40843900 chr2:40843893-40843900 chr2:40843886-40843907 chr2:40843893-40843900 |
13 | GATA3 | chr2:40843288-40843369 | SH-SY5Y | brain: | n/a | n/a |
14 | GATA3 | chr2:40855903-40856186 | SH-SY5Y | brain: | n/a | n/a |
15 | JUN | chr2:40862002-40862229 | HepG2 | liver: | n/a | chr2:40862166-40862175 chr2:40862111-40862124 |
16 | JUND | chr2:40862001-40862227 | HepG2 | liver: | n/a | chr2:40862166-40862175 |
17 | MAFF | chr2:40857232-40857538 | HepG2 | liver: | n/a | chr2:40857368-40857386 |
18 | MAFF | chr2:40850298-40850584 | HepG2 | liver: | n/a | chr2:40850431-40850449 |
19 | MAFF | chr2:40850367-40850522 | K562 | blood: | n/a | chr2:40850431-40850449 |
20 | MAFK | chr2:40857196-40857550 | HepG2 | liver: | n/a | chr2:40857369-40857384 |
21 | MAFK | chr2:40857235-40857477 | IMR90 | lung: | n/a | chr2:40857369-40857384 |
22 | MAFK | chr2:40857233-40857501 | HepG2 | liver: | n/a | chr2:40857369-40857384 |
23 | MAFK | chr2:40853083-40853339 | IMR90 | lung: | n/a | n/a |
24 | MAFK | chr2:40850300-40850592 | HepG2 | liver: | n/a | chr2:40850432-40850447 |
25 | MAFK | chr2:40855394-40855478 | HepG2 | liver: | n/a | n/a |
26 | MAFK | chr2:40859632-40859763 | HepG2 | liver: | n/a | n/a |
27 | MAFK | chr2:40850320-40850506 | HepG2 | liver: | n/a | chr2:40850432-40850447 |
28 | MYC | chr2:40852824-40853424 | MCF10A-Er-Src | breast: | n/a | chr2:40853217-40853226 |
29 | MYC | chr2:40853101-40853309 | MCF10A-Er-Src | breast: | n/a | chr2:40853217-40853226 |
30 | MYC | chr2:40842938-40842996 | H1-hESC | embryonic stem cell: | n/a | n/a |
31 | NFYA | chr2:40850874-40850945 | GM12878 | blood: | n/a | n/a |
32 | NFYA | chr2:40847808-40847936 | GM12878 | blood: | n/a | n/a |
33 | NRF1 | chr2:40843410-40843451 | GM12878 | blood: | n/a | n/a |
34 | POLR2A | chr2:40842374-40842574 | MCF10A-Er-Src | breast: | n/a | n/a |
35 | POLR2A | chr2:40855450-40855924 | MCF10A-Er-Src | breast: | n/a | n/a |
36 | POLR2A | chr2:40853117-40853222 | MCF10A-Er-Src | breast: | n/a | n/a |
37 | POLR2A | chr2:40852957-40853358 | U87 | brain: | n/a | n/a |
38 | POLR2A | chr2:40847988-40847989 | MCF10A-Er-Src | breast: | n/a | n/a |
39 | POLR2A | chr2:40847238-40847261 | MCF10A-Er-Src | breast: | n/a | n/a |
40 | POLR2A | chr2:40857499-40857555 | MCF10A-Er-Src | breast: | n/a | n/a |
41 | POLR2A | chr2:40852667-40852867 | MCF10A-Er-Src | breast: | n/a | n/a |
42 | POLR2A | chr2:40842703-40842896 | MCF10A-Er-Src | breast: | n/a | n/a |
43 | POLR2A | chr2:40839488-40839640 | MCF10A-Er-Src | breast: | n/a | n/a |
44 | STAT3 | chr2:40854990-40855190 | MCF10A-Er-Src | breast: | n/a | n/a |
45 | STAT3 | chr2:40853010-40853378 | MCF10A-Er-Src | breast: | n/a | n/a |
46 | STAT3 | chr2:40852999-40853398 | MCF10A-Er-Src | breast: | n/a | n/a |
47 | STAT3 | chr2:40850304-40850685 | MCF10A-Er-Src | breast: | n/a | n/a |
48 | STAT3 | chr2:40853024-40853363 | MCF10A-Er-Src | breast: | n/a | n/a |
49 | TCF7L2 | chr2:40847873-40848195 | HepG2 | liver: | n/a | n/a |
50 | USF1 | chr2:40846766-40847044 | H1-hESC | embryonic stem cell: | n/a | n/a |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:40845989-40846039 | HL-60 | blood: | n/a |
2 | chr2:40845989-40846039 | PANC-1 | pancreas: | n/a |
3 | chr2:40845989-40846039 | HMEC | breast: | n/a |
4 | chr2:40845989-40846039 | GM12891 | blood: | n/a |
5 | chr2:40845989-40846039 | T-47D | breast: | n/a |
6 | chr2:40845989-40846039 | PFSK-1 | brain: | n/a |
7 | chr2:40845989-40846039 | K562 | blood: | n/a |
8 | chr2:40845989-40846039 | NH-A | brain: | n/a |
9 | chr2:40845989-40846039 | HRCEpiC | kidney: | n/a |
10 | chr2:40845989-40846039 | AG04450 | lung: | fetal |
11 | chr2:40845989-40846039 | NB4 | blood: | n/a |
12 | chr2:40845989-40846039 | HUVEC | blood vessel: | n/a |
13 | chr2:40845989-40846039 | GM12892 | blood: | n/a |
14 | chr2:40845989-40846039 | HCT-116 | colon: | n/a |
15 | chr2:40845989-40846039 | H1-hESC | embryonic stem cell: | embryo |
16 | chr2:40845989-40846039 | LNCaP | prostate: | n/a |
17 | chr2:40845989-40846039 | HCM | heart: | n/a |
18 | chr2:40845989-40846039 | AoSMC | blood vessel: | n/a |
19 | chr2:40845989-40846039 | SKMC | muscle: | n/a |
20 | chr2:40845989-40846039 | AG10803 | skin: | n/a |
21 | chr2:40845989-40846039 | NT2-D1 | testis: | n/a |
22 | chr2:40845989-40846039 | GM12878 | blood: | n/a |
23 | chr2:40845989-40846039 | HEK293 | kidney: | embryo |
24 | chr2:40845989-40846039 | Jurkat | blood: | n/a |
25 | chr2:40845989-40846039 | U87 | brain: | n/a |
26 | chr2:40845989-40846039 | HIPEpiC | eye: | n/a |
27 | chr2:40845989-40846039 | HNPCEpiC | eye: | n/a |
28 | chr2:40845989-40846039 | Caco-2 | colon: | n/a |
29 | chr2:40845989-40846039 | SK-N-SH_RA | brain: | n/a |
30 | chr2:40845989-40846039 | HEEpiC | esophagus: | n/a |
31 | chr2:40845989-40846039 | HPAEpiC | pulmonary alveolar: | n/a |
32 | chr2:40845989-40846039 | CMK | blood: | n/a |
33 | chr2:40845989-40846039 | IMR90 | lung: | fetal |
34 | chr2:40845989-40846039 | SK-N-SH | brain: | n/a |
35 | chr2:40845989-40846039 | PrEC | prostate: | n/a |
36 | chr2:40845989-40846039 | HCF | heart: | n/a |
37 | chr2:40845989-40846039 | HepG2 | liver: | n/a |
38 | chr2:40845989-40846039 | A549 | lung: | n/a |
39 | chr2:40845989-40846039 | AG04449 | skin: | fetal |
40 | chr2:40845989-40846039 | ovcar-3 | ovarian: | n/a |
41 | chr2:40845989-40846039 | AG09319 | gingival: | n/a |
42 | chr2:40845989-40846039 | RPTEC | kidney: | n/a |
43 | chr2:40845989-40846039 | HCPEpiC | choroid plexus: | n/a |
44 | chr2:40845989-40846039 | ProgFib | skin: | n/a |
45 | chr2:40845989-40846039 | HRPEpiC | eye: | n/a |
46 | chr2:40845989-40846039 | Hela-S3 | cervix: | n/a |
47 | chr2:40845989-40846039 | MCF-7 | breast: | n/a |
48 | chr2:40845989-40846039 | BJ | skin: | n/a |
49 | chr2:40845989-40846039 | NHBE | bronchial: | n/a |
50 | chr2:40845989-40846039 | GM19239 | blood: | n/a |
No data |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-TMEM178-7 | chr2:40847860-40848096 | NONHSAT070282 |
No data |
No data |
Variant related genes | Relation type |
---|---|
SLC8A1 | TF binding region |
SLC8A1 | CpG island |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs550276479 | chr2:40839495-40839496 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs146280126 | chr2:40839535-40839536 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs115026992 | chr2:40839572-40839573 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs139060705 | chr2:40839581-40839582 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs567991200 | chr2:40839616-40839617 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs184147605 | chr2:40841699-40841700 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs560793977 | chr2:40841705-40841706 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs527822373 | chr2:40841718-40841719 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs545901514 | chr2:40841736-40841737 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs375657712 | chr2:40841776-40841777 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs7593990 | chr2:40841777-40841778 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs576172457 | chr2:40842390-40842391 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs372454097 | chr2:40842399-40842400 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs561888595 | chr2:40842408-40842409 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs148195593 | chr2:40842441-40842442 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs540935666 | chr2:40842462-40842463 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs574219875 | chr2:40842487-40842488 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs186270364 | chr2:40842491-40842492 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
19 | rs544734521 | chr2:40842506-40842507 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs34269972 | chr2:40842511-40842512 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs551648748 | chr2:40842706-40842707 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs42794 | chr2:40842716-40842717 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs530579072 | chr2:40842732-40842733 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
24 | rs181015968 | chr2:40842772-40842773 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
25 | rs567121988 | chr2:40842779-40842780 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
26 | rs578114470 | chr2:40842790-40842791 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
27 | rs115356568 | chr2:40842813-40842814 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
28 | rs566081983 | chr2:40842823-40842824 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
29 | rs539639443 | chr2:40842839-40842840 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
30 | rs557892309 | chr2:40842866-40842867 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
31 | rs576235513 | chr2:40842878-40842879 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
32 | rs367642421 | chr2:40842891-40842892 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
33 | rs537123111 | chr2:40842894-40842895 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
34 | rs190237540 | chr2:40842939-40842940 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
35 | rs183320569 | chr2:40842946-40842947 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
36 | rs559682419 | chr2:40842950-40842951 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
37 | rs578028578 | chr2:40842991-40842992 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
38 | rs563426339 | chr2:40843056-40843057 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
39 | rs530752740 | chr2:40843061-40843062 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
40 | rs548767434 | chr2:40843079-40843080 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
41 | rs561069794 | chr2:40843098-40843099 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
42 | rs114213920 | chr2:40843099-40843100 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
43 | rs546616908 | chr2:40843112-40843113 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
44 | rs570922926 | chr2:40843117-40843118 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
45 | rs539699665 | chr2:40843122-40843123 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
46 | rs557267661 | chr2:40843806-40843807 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs367730741 | chr2:40843819-40843820 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs192589426 | chr2:40843881-40843882 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs542569169 | chr2:40843965-40843966 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs554705733 | chr2:40843971-40843972 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17393978 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 17603634 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Lynch syndrome | 18415027 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Neuroblastoma | 17533364 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Adrenal tumor | 17535989 | CNVD |
Breast cancer | 21264507 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Medulloblastoma | 17522785 | CNVD |
Cancer | 23418310 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Ependymoma | 16718352 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Prostate cancer | 18632612 | CNVD |
Bladder cancer | 21909424 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Intellectual disability | 22102821 | CNVD |
Cancer | 20164919 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Autism | 17483303 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Myofibroblastic sarcoma | 19369631 | CNVD |
Esophageal adenocarcinoma | 18519675 | CNVD |
Medulloblastoma | 20607354 | CNVD |
Leukemia | 18628472 | CNVD |
Autism | 22495311 | CNVD |
Autism | 19521722 | CNVD |
Autism | 18522746 | CNVD |
Non-small cell lung cancer | 18927303 | CNVD |
Breast cancer | 21785460 | CNVD |
Lung cancer | 18438408 | CNVD |
Prostate cancer | 21965145 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute lymphoblastic leukemia | 21390130 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Neuroblastoma | 21508638 | CNVD |
Neurodevelopmental disorder | 22521361 | CNVD |
Neurocytoma | 17123091 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 16751803 | CNVD |
Breast cancer | 21364760 | CNVD |
Colorectal cancer | 16272173 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Williams Syndrome | 20824207 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:40843800-40844400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr2:40844400-40853000 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
3 | chr2:40852200-40853800 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr2:40852400-40853200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
5 | chr2:40852400-40853200 | Enhancers | NHDF-Ad | bronchial |
6 | chr2:40852400-40854000 | Enhancers | NHEK | skin |
7 | chr2:40852600-40853400 | Enhancers | Muscle Satellite Cultured Cells | -- |
8 | chr2:40852600-40853400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
9 | chr2:40852800-40853600 | Enhancers | Osteobl | bone |
10 | chr2:40853000-40854200 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr2:40856800-40857200 | Enhancers | Colon Smooth Muscle | Colon |