Variant report
Variant | nsv554411 |
---|---|
Chromosome Location | chr11:50415993-50766308 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:2 , 50 per page) page:
1
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs537952533 | chr11:50415997-50415998 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
2 | rs554372215 | chr11:50416011-50416012 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
3 | rs558466761 | chr11:50416026-50416027 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
4 | rs149127933 | chr11:50416050-50416051 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
5 | rs61894067 | chr11:50416059-50416060 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
6 | rs2872366 | chr11:50416066-50416067 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
7 | rs563857553 | chr11:50416084-50416085 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
8 | rs545793734 | chr11:50416089-50416090 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
9 | rs529474148 | chr11:50416091-50416092 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
10 | rs78071180 | chr11:50416105-50416106 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
11 | rs370906398 | chr11:50416136-50416137 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
12 | rs571700472 | chr11:50416158-50416159 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
13 | rs148263646 | chr11:50416178-50416179 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
14 | rs141421901 | chr11:50416187-50416188 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
15 | rs576133417 | chr11:50416197-50416198 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
16 | rs543165148 | chr11:50416208-50416209 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
17 | rs146991000 | chr11:50416213-50416214 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
18 | rs561498215 | chr11:50416227-50416228 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
19 | rs376611157 | chr11:50416230-50416231 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
20 | rs691412 | chr11:50416251-50416252 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
21 | rs547185371 | chr11:50416258-50416259 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
22 | rs557205668 | chr11:50416259-50416260 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
23 | rs559548645 | chr11:50416269-50416270 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
24 | rs528526935 | chr11:50416271-50416272 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
25 | rs560778688 | chr11:50416278-50416279 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
26 | rs532689129 | chr11:50416327-50416328 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
27 | rs56790322 | chr11:50416359-50416360 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
28 | rs113848253 | chr11:50416361-50416362 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
29 | rs369122462 | chr11:50416369-50416370 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
30 | rs79960583 | chr11:50416373-50416374 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
31 | rs79754931 | chr11:50416377-50416378 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
32 | rs548291387 | chr11:50416380-50416381 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
33 | rs568188857 | chr11:50416394-50416395 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
34 | rs78527752 | chr11:50416395-50416396 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
35 | rs540723442 | chr11:50416401-50416402 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
36 | rs185602870 | chr11:50416412-50416413 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
37 | rs577107460 | chr11:50416435-50416436 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
38 | rs539347802 | chr11:50416438-50416439 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
39 | rs556150701 | chr11:50416488-50416489 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
40 | rs147155542 | chr11:50416497-50416498 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
41 | rs111239041 | chr11:50416498-50416499 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
42 | rs564218972 | chr11:50416500-50416501 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
43 | rs537887695 | chr11:50416514-50416515 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
44 | rs75589627 | chr11:50416531-50416532 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
45 | rs80335466 | chr11:50416539-50416540 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
46 | rs560518929 | chr11:50416576-50416577 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
47 | rs180940636 | chr11:50416578-50416579 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
48 | rs577728881 | chr11:50416579-50416580 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
49 | rs552580502 | chr11:50416604-50416605 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
50 | rs138382955 | chr11:50416613-50416614 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Chordoma | 21602918 | CNVD |
Breast cancer | 21949216 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 19222835 | CNVD |
T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 21264507 | CNVD |
Beckwith-Wiedemann syndrome | 21518781 | CNVD |
Wilms tumour | 21518781 | CNVD |
Hepatoblastoma | 21518781 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Gastrointestinal stromal cancer | 17535989 | CNVD |
Paraganglioma | 17535989 | CNVD |
Pulmonary chondroma | 17535989 | CNVD |
Wilms tumour | 21544195 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Multiple myeloma | 20724749 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Autism | 22495311 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Intellectual disability | 22102821 | CNVD |
Renal cell carcinoma | 18194544 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Potocki-Shaffer syndrome | 19222835 | CNVD |
WAGR syndrome | 19222835 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 16608533 | CNVD |
Hirschsprung''s Disease | 21712996 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Colorectal cancer | 21128281 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Breast cancer | 21364760 | CNVD |
Prostate cancer | 18632612 | CNVD |
Breast cancer | 21990379 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Intellectual disability | 22045946 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Mortal | 21835882 | CNVD |
Autism | 22495309 | CNVD |
Breast cancer | 21785460 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Breast cancer | 17142309 | CNVD |
Bipolar disorder | 19214233 | CNVD |
Medulloblastoma | 21163964 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
Bipolar disorder | 19114987 | CNVD |
Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr11:50406200-50417200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr11:50408200-50417200 | ZNF genes & repeats | Liver | Liver |
3 | chr11:50410200-50417400 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
4 | chr11:50410200-50417800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
5 | chr11:50416600-50417200 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr11:50418800-50424200 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
7 | chr11:50419600-50423400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
8 | chr11:50419600-50431000 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
9 | chr11:50420000-50423600 | ZNF genes & repeats | Liver | Liver |
10 | chr11:50420200-50421200 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
11 | chr11:50423000-50426000 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
12 | chr11:50423600-50425400 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
13 | chr11:50426000-50427000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
14 | chr11:50428000-50428800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
15 | chr11:50435400-50442800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
16 | chr11:50436000-50438200 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
17 | chr11:50437400-50438000 | ZNF genes & repeats | HepG2 | liver |
18 | chr11:50437600-50438000 | ZNF genes & repeats | H9 Cell Line | embryonic stem cell |
19 | chr11:50437600-50438000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
20 | chr11:50437600-50438000 | ZNF genes & repeats | HUVEC | blood vessel |
21 | chr11:50437600-50438200 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
22 | chr11:50437600-50444000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
23 | chr11:50437800-50438000 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
24 | chr11:50437800-50438000 | ZNF genes & repeats | ES-WA7 Cell Line | embryonic stem cell |
25 | chr11:50437800-50438000 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
26 | chr11:50437800-50438000 | ZNF genes & repeats | iPS DF 6.9 Cell Line | embryonic stem cell |
27 | chr11:50437800-50438000 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
28 | chr11:50437800-50438000 | ZNF genes & repeats | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
29 | chr11:50437800-50438000 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
30 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
31 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
32 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
33 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
34 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T helper cells fromperipheralblood | blood |
35 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T regulatory cells fromperipheralblood | blood |
36 | chr11:50437800-50438000 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
37 | chr11:50437800-50438000 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
38 | chr11:50437800-50438000 | ZNF genes & repeats | Muscle Satellite Cultured Cells | -- |
39 | chr11:50437800-50438000 | ZNF genes & repeats | Brain Anterior Caudate | brain |
40 | chr11:50437800-50438000 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
41 | chr11:50437800-50438000 | ZNF genes & repeats | Brain Substantia Nigra | brain |
42 | chr11:50437800-50438000 | Flanking Bivalent TSS/Enh | Colonic Mucosa | Colon |
43 | chr11:50437800-50438000 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
44 | chr11:50437800-50438000 | ZNF genes & repeats | Left Ventricle | heart |
45 | chr11:50437800-50438000 | ZNF genes & repeats | Small Intestine | intestine |
46 | chr11:50437800-50438000 | ZNF genes & repeats | Stomach Mucosa | stomach |
47 | chr11:50437800-50438000 | ZNF genes & repeats | HSMMtube | muscle |
48 | chr11:50437800-50438200 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
49 | chr11:50437800-50438200 | ZNF genes & repeats | iPS-18 Cell Line | embryonic stem cell |
50 | chr11:50437800-50438400 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |