Variant report
| Variant | esv3435760 |
|---|---|
| Chromosome Location | chr19:27739988-28047842 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:14)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:14 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:27812380..27812881-chr7:58041614..58042119,2 | MCF-7 | breast: | |
| 2 | chr1:121482889..121485426-chr19:27735763..27740540,17 | K562 | blood: | |
| 3 | chr1:121483051..121485429-chr19:27736244..27740196,9 | MCF-7 | breast: | |
| 4 | chr19:27738271..27740312-chr4:68262912..68265515,2 | MCF-7 | breast: | |
| 5 | chr19:27731229..27733515-chr19:27737682..27740212,3 | MCF-7 | breast: | |
| 6 | chr1:121482889..121485426-chr19:27733290..27740540,17 | K562 | blood: | |
| 7 | chr19:27739276..27740188-chr3:90489068..90489568,2 | MCF-7 | breast: | |
| 8 | chr1:121484242..121485223-chr19:27739792..27740312,2 | MCF-7 | breast: | |
| 9 | chr16:69363397..69365027-chr19:27738551..27740871,2 | MCF-7 | breast: | |
| 10 | chr13:28193921..28196192-chr19:27738694..27740822,2 | MCF-7 | breast: | |
| 11 | chr18:18518469..18519030-chr19:27812381..27812905,2 | MCF-7 | breast: | |
| 12 | chr19:27920492..27922596-chr19:29749954..29752655,2 | K562 | blood: | |
| 13 | chr19:27961286..27961807-chr8:46850621..46851139,2 | MCF-7 | breast: | |
| 14 | chr16:31225017..31226858-chr19:27739368..27741281,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000186184 | chromatin interactions |
| ENSG00000139517 | chromatin interactions |
| ENSG00000258429 | chromatin interactions |
| ENSG00000177238 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs78753912 | chr19:27739988-27739989 | ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 2 | rs140463147 | chr19:27739989-27739990 | ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 3 | rs568958090 | chr19:27739990-27739991 | ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 4 | rs142142231 | chr19:27739994-27739995 | ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 5 | rs536017176 | chr19:27739999-27740000 | ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 6 | rs74901694 | chr19:27740002-27740003 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 7 | rs374489872 | chr19:27740003-27740004 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 8 | rs368474128 | chr19:27740004-27740005 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 9 | rs77130629 | chr19:27740005-27740006 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 10 | rs371873298 | chr19:27740006-27740007 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 11 | rs577923453 | chr19:27740007-27740008 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 12 | rs545407020 | chr19:27740009-27740010 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 13 | rs563608934 | chr19:27740012-27740013 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 14 | rs78569507 | chr19:27740015-27740016 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 15 | rs74802553 | chr19:27740018-27740019 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 16 | rs376434776 | chr19:27740021-27740022 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 17 | rs369311402 | chr19:27740025-27740026 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 18 | rs80223629 | chr19:27740026-27740027 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 19 | rs575840187 | chr19:27740035-27740036 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 20 | rs372014130 | chr19:27740036-27740037 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 21 | rs79887609 | chr19:27740041-27740042 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 22 | rs62133474 | chr19:27740042-27740043 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 23 | rs74360791 | chr19:27740043-27740044 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 24 | rs376624792 | chr19:27740046-27740047 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 25 | rs28786129 | chr19:27740050-27740051 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 26 | rs77647781 | chr19:27740053-27740054 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 27 | rs543230869 | chr19:27740054-27740055 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 28 | rs561511575 | chr19:27740059-27740060 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 29 | rs77445757 | chr19:27740060-27740061 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 30 | rs368732945 | chr19:27740061-27740062 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 31 | rs373923401 | chr19:27740062-27740063 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 32 | rs80092083 | chr19:27740063-27740064 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 33 | rs111897836 | chr19:27740064-27740065 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 34 | rs376871342 | chr19:27740065-27740066 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 35 | rs528697847 | chr19:27740067-27740068 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 36 | rs547277156 | chr19:27740071-27740072 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 37 | rs74200650 | chr19:27740072-27740073 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 38 | rs79331691 | chr19:27740073-27740074 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 39 | rs370065364 | chr19:27740074-27740075 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 40 | rs62133475 | chr19:27740075-27740076 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 41 | rs79498282 | chr19:27740078-27740079 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 42 | rs188524108 | chr19:27740096-27740097 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 43 | rs544343731 | chr19:27740107-27740108 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 44 | rs373279168 | chr19:27740108-27740109 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 45 | rs377300869 | chr19:27740109-27740110 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 46 | rs531988009 | chr19:27740113-27740114 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 47 | rs201308810 | chr19:27740134-27740135 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 48 | rs202107065 | chr19:27740138-27740139 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 49 | rs112187426 | chr19:27740143-27740144 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
| 50 | rs201703037 | chr19:27740145-27740146 | ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:38)
| Disease | PMID | Source |
|---|---|---|
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Oral cancer | 21386901 | CNVD |
| ovarian endometriomas | 16273235 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Cervical cancer | 21063398 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Chordoma | 21602918 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Cancer | 21637783 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Cancer | 20164919 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Adenoid cystic carcinoma | 18698036 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Ductal carcinoma | 22052326 | CNVD |
| Cancer | 20164920 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Renal cell carcinoma | 18194544 | CNVD |
| Pleomorphic liposarcoma | 18784837 | CNVD |
| Autism | 19287141 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Congenital nephrotic syndrome | 18421352 | CNVD |
| Astrocytoma | 17934521 | CNVD |
| Leukemia | 17361228 | CNVD |
| Adenoid cystic carcinoma | 17372589 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:27731800-27740000 | ZNF genes & repeats | Primary T helper cells fromperipheralblood | blood |
| 2 | chr19:27731800-27740000 | ZNF genes & repeats | Colonic Mucosa | Colon |
| 3 | chr19:27731800-27740200 | ZNF genes & repeats | Primary T cells effector/memory enriched fromperipheralblood | blood |
| 4 | chr19:27731800-27740400 | ZNF genes & repeats | H1 Cell Line | embryonic stem cell |
| 5 | chr19:27731800-27740400 | ZNF genes & repeats | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 6 | chr19:27731800-27740400 | ZNF genes & repeats | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
| 7 | chr19:27731800-27740400 | ZNF genes & repeats | hESC Derived CD56+ Mesoderm Cultured Cells | ES cell derived |
| 8 | chr19:27731800-27740400 | ZNF genes & repeats | iPS-15b Cell Line | embryonic stem cell |
| 9 | chr19:27731800-27740400 | ZNF genes & repeats | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 10 | chr19:27731800-27740400 | ZNF genes & repeats | Primary T helper naive cells from peripheral blood | blood |
| 11 | chr19:27731800-27740400 | ZNF genes & repeats | Primary T helper naive cells fromperipheralblood | blood |
| 12 | chr19:27731800-27740400 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 1 | blood |
| 13 | chr19:27731800-27740400 | ZNF genes & repeats | Primary T killer naive cells fromperipheralblood | blood |
| 14 | chr19:27731800-27740400 | ZNF genes & repeats | Muscle Satellite Cultured Cells | -- |
| 15 | chr19:27731800-27740400 | ZNF genes & repeats | Brain Cingulate Gyrus | brain |
| 16 | chr19:27731800-27740400 | ZNF genes & repeats | Brain Dorsolateral Prefrontal Cortex | brain |
| 17 | chr19:27731800-27740400 | ZNF genes & repeats | Fetal Heart | heart |
| 18 | chr19:27731800-27740400 | ZNF genes & repeats | Fetal Lung | lung |
| 19 | chr19:27731800-27740400 | ZNF genes & repeats | Rectal Mucosa Donor 31 | rectum |
| 20 | chr19:27731800-27740400 | ZNF genes & repeats | Small Intestine | intestine |
| 21 | chr19:27731800-27740400 | ZNF genes & repeats | Stomach Mucosa | stomach |
| 22 | chr19:27731800-27740600 | ZNF genes & repeats | ES-I3 Cell Line | embryonic stem cell |
| 23 | chr19:27731800-27740600 | ZNF genes & repeats | ES-WA7 Cell Line | embryonic stem cell |
| 24 | chr19:27731800-27740600 | ZNF genes & repeats | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
| 25 | chr19:27731800-27740600 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
| 26 | chr19:27731800-27740600 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
| 27 | chr19:27731800-27740600 | ZNF genes & repeats | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 28 | chr19:27731800-27740600 | ZNF genes & repeats | Primary B cells from cord blood | blood |
| 29 | chr19:27731800-27740600 | ZNF genes & repeats | Primary hematopoietic stem cells short term culture | blood |
| 30 | chr19:27731800-27740600 | ZNF genes & repeats | Primary T helper memory cells from peripheral blood 2 | blood |
| 31 | chr19:27731800-27740600 | ZNF genes & repeats | Primary T helper cells PMA-I stimulated | -- |
| 32 | chr19:27731800-27740600 | ZNF genes & repeats | Primary T helper 17 cells PMA-I stimulated | -- |
| 33 | chr19:27731800-27740600 | ZNF genes & repeats | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
| 34 | chr19:27731800-27740600 | ZNF genes & repeats | Adipose Nuclei | Adipose |
| 35 | chr19:27731800-27740600 | ZNF genes & repeats | Liver | Liver |
| 36 | chr19:27731800-27740600 | ZNF genes & repeats | Brain Angular Gyrus | brain |
| 37 | chr19:27731800-27740600 | ZNF genes & repeats | Brain Anterior Caudate | brain |
| 38 | chr19:27731800-27740600 | ZNF genes & repeats | Brain Inferior Temporal Lobe | brain |
| 39 | chr19:27731800-27740600 | ZNF genes & repeats | Brain Substantia Nigra | brain |
| 40 | chr19:27731800-27740600 | ZNF genes & repeats | Colon Smooth Muscle | Colon |
| 41 | chr19:27731800-27740600 | ZNF genes & repeats | Duodenum Mucosa | Duodenum |
| 42 | chr19:27731800-27740600 | ZNF genes & repeats | Duodenum Smooth Muscle | Duodenum |
| 43 | chr19:27731800-27740600 | ZNF genes & repeats | Pancreatic Islets | Pancreatic Islet |
| 44 | chr19:27731800-27740600 | ZNF genes & repeats | Left Ventricle | heart |
| 45 | chr19:27731800-27740600 | ZNF genes & repeats | Rectal Mucosa Donor 29 | rectum |
| 46 | chr19:27731800-27740600 | ZNF genes & repeats | Rectal Smooth Muscle | rectum |
| 47 | chr19:27731800-27740600 | ZNF genes & repeats | Sigmoid Colon | Sigmoid Colon |
| 48 | chr19:27731800-27740600 | ZNF genes & repeats | Skeletal Muscle Female | skeletal muscle |
| 49 | chr19:27731800-27740600 | ZNF genes & repeats | HMEC | breast |
| 50 | chr19:27731800-27740600 | ZNF genes & repeats | HSMMtube | muscle |
