Variant report
| Variant | nsv897538 |
|---|---|
| Chromosome Location | chr11:50440270-51221009 |
| 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 |
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs386753501 | chr11:50440270-50440271 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs76179478 | chr11:50440271-50440272 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs141119274 | chr11:50440272-50440273 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs534092078 | chr11:50440277-50440278 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs554101381 | chr11:50440324-50440325 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs576938978 | chr11:50440337-50440338 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs545765486 | chr11:50440341-50440342 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs115690108 | chr11:50440347-50440348 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs563197753 | chr11:50440366-50440367 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs150260204 | chr11:50440400-50440401 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs541512004 | chr11:50440414-50440415 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs201149496 | chr11:50440466-50440467 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs561155386 | chr11:50440470-50440471 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs147930958 | chr11:50440481-50440482 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs546917190 | chr11:50440518-50440519 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs117540965 | chr11:50440528-50440529 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs532411170 | chr11:50440532-50440533 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs552549497 | chr11:50440546-50440547 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs569108058 | chr11:50440563-50440564 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs111548448 | chr11:50440580-50440581 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs548357022 | chr11:50440599-50440600 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs539179757 | chr11:50440612-50440613 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs189907734 | chr11:50440647-50440648 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs554152282 | chr11:50440653-50440654 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs112847029 | chr11:50440672-50440673 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs141720507 | chr11:50440674-50440675 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs147066487 | chr11:50440679-50440680 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs556146986 | chr11:50440684-50440685 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs575915146 | chr11:50440704-50440705 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs560979850 | chr11:50440709-50440710 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs529751350 | chr11:50440726-50440727 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs561424941 | chr11:50440735-50440736 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs546296067 | chr11:50440745-50440746 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs181704220 | chr11:50440757-50440758 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs368490178 | chr11:50440766-50440767 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs540417270 | chr11:50440778-50440779 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs560272452 | chr11:50440793-50440794 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs692480 | chr11:50440804-50440805 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 39 | rs552564403 | chr11:50440807-50440808 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs114748968 | chr11:50440848-50440849 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs556139369 | chr11:50440866-50440867 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs692469 | chr11:50440915-50440916 | ZNF genes & repeats | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 43 | rs112110259 | chr11:50440937-50440938 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 44 | rs568560582 | chr11:50441016-50441017 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs534247495 | chr11:50441025-50441026 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs187276617 | chr11:50441032-50441033 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs570633761 | chr11:50441041-50441042 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs539737127 | chr11:50441056-50441057 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs556170177 | chr11:50441060-50441061 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs569034055 | chr11:50441063-50441064 | ZNF genes & repeats | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:59)
| 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 |
| 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 |
| Bipolar disorder | 19114987 | CNVD |
| Non-syndromic sensorineural hearing loss | 21293372 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Cancer | 20164919 | CNVD |
| Williams Syndrome | 20824207 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
| Ovarian clear cell carcinoma | 21343371 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:50435400-50442800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr11:50437600-50444000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 3 | chr11:50442400-50447800 | ZNF genes & repeats | Liver | Liver |
| 4 | chr11:50443000-50447600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 5 | chr11:50443600-50443800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 6 | chr11:50443600-50447800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 7 | chr11:50445200-50447800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 8 | chr11:50445600-50446000 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 9 | chr11:50451000-50456800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 10 | chr11:50459800-50460800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 11 | chr11:50464200-50466200 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 12 | chr11:50464600-50465000 | ZNF genes & repeats | Liver | Liver |
| 13 | chr11:50472800-50489800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 14 | chr11:50473800-50477200 | ZNF genes & repeats | Liver | Liver |
| 15 | chr11:50474400-50484600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 16 | chr11:50475000-50475400 | Active TSS | Primary T helper memory cells from peripheral blood 1 | blood |
| 17 | chr11:50475000-50475800 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 18 | chr11:50475200-50475400 | ZNF genes & repeats | HepG2 | liver |
| 19 | chr11:50476400-50480000 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 20 | chr11:50476600-50478000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 21 | chr11:50476800-50478800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 22 | chr11:50481600-50485600 | ZNF genes & repeats | Liver | Liver |
| 23 | chr11:50483400-50489400 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 24 | chr11:50486000-50486800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 25 | chr11:50487400-50492400 | ZNF genes & repeats | Liver | Liver |
| 26 | chr11:50487400-50492600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 27 | chr11:50490400-50490800 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 28 | chr11:50492400-50492800 | Active TSS | Aorta | Aorta |
| 29 | chr11:50493400-50494600 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 30 | chr11:50494200-50495800 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 31 | chr11:50496800-50497600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 32 | chr11:50498800-50499800 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 33 | chr11:50499200-50503400 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 34 | chr11:50502600-50504600 | ZNF genes & repeats | Liver | Liver |
| 35 | chr11:50510800-50517800 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 36 | chr11:50512200-50513800 | ZNF genes & repeats | HUES64 Cell Line | embryonic stem cell |
| 37 | chr11:50513200-50516400 | ZNF genes & repeats | iPS-20b Cell Line | embryonic stem cell |
| 38 | chr11:50516200-50518200 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 39 | chr11:50517400-50518200 | ZNF genes & repeats | Liver | Liver |
| 40 | chr11:50522000-50523000 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
| 41 | chr11:50522000-50526000 | ZNF genes & repeats | HUES48 Cell Line | embryonic stem cell |
| 42 | chr11:50522000-50528400 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 43 | chr11:50522200-50522400 | Flanking Active TSS | ES-WA7 Cell Line | embryonic stem cell |
| 44 | chr11:50522200-50522600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 45 | chr11:50522200-50522600 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 46 | chr11:50522200-50522600 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 47 | chr11:50522200-50522600 | ZNF genes & repeats | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 48 | chr11:50522200-50522600 | Flanking Bivalent TSS/Enh | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 49 | chr11:50522200-50522600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 50 | chr11:50522200-50522600 | ZNF genes & repeats | Primary hematopoietic stem cells | blood |
