Variant report
| Variant | esv3432664 |
|---|---|
| Chromosome Location | chr7:66291892-66307249 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:218)
- CpG islands (count:61)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:66307208-66307258 | SKMC | muscle: | n/a |
| 2 | chr7:66307208-66307258 | HEEpiC | esophagus: | n/a |
| 3 | chr7:66307208-66307258 | NHDF-neo | bronchial: | n/a |
| 4 | chr7:66307208-66307258 | LNCaP | prostate: | n/a |
| 5 | chr7:66307208-66307258 | NH-A | brain: | n/a |
| 6 | chr7:66307208-66307258 | BE2_C | brain: | n/a |
| 7 | chr7:66307208-66307258 | NB4 | blood: | n/a |
| 8 | chr7:66307208-66307258 | Hela-S3 | cervix: | n/a |
| 9 | chr7:66307208-66307258 | HMEC | breast: | n/a |
| 10 | chr7:66307208-66307258 | HRE | kidney: | n/a |
| 11 | chr7:66307208-66307258 | HepG2 | liver: | n/a |
| 12 | chr7:66307208-66307258 | PrEC | prostate: | n/a |
| 13 | chr7:66307208-66307258 | SAEC | small airway: | n/a |
| 14 | chr7:66307208-66307258 | CMK | blood: | n/a |
| 15 | chr7:66307208-66307258 | PFSK-1 | brain: | n/a |
| 16 | chr7:66307208-66307258 | RPTEC | kidney: | n/a |
| 17 | chr7:66307208-66307258 | PANC-1 | pancreas: | n/a |
| 18 | chr7:66307208-66307258 | HL-60 | blood: | n/a |
| 19 | chr7:66307208-66307258 | Caco-2 | colon: | n/a |
| 20 | chr7:66307208-66307258 | SK-N-SH | brain: | n/a |
| 21 | chr7:66307208-66307258 | MCF10A-Er-Src | breast: | n/a |
| 22 | chr7:66307208-66307258 | HRCEpiC | kidney: | n/a |
| 23 | chr7:66307208-66307258 | ProgFib | skin: | n/a |
| 24 | chr7:66307208-66307258 | HUVEC | blood vessel: | n/a |
| 25 | chr7:66307208-66307258 | AG09309 | skin: | n/a |
| 26 | chr7:66307208-66307258 | IMR90 | lung: | fetal |
| 27 | chr7:66307208-66307258 | HCF | heart: | n/a |
| 28 | chr7:66307208-66307258 | HAEpiC | amniotic membrane: | n/a |
| 29 | chr7:66307208-66307258 | GM19239 | blood: | n/a |
| 30 | chr7:66307208-66307258 | K562 | blood: | n/a |
| 31 | chr7:66307208-66307258 | ovcar-3 | ovarian: | n/a |
| 32 | chr7:66307208-66307258 | AG10803 | skin: | n/a |
| 33 | chr7:66307208-66307258 | T-47D | breast: | n/a |
| 34 | chr7:66307208-66307258 | ECC-1 | luminal epithelium: | n/a |
| 35 | chr7:66307208-66307258 | AoSMC | blood vessel: | n/a |
| 36 | chr7:66307208-66307258 | Hepatocyte | liver: | n/a |
| 37 | chr7:66307208-66307258 | SK-N-SH_RA | brain: | n/a |
| 38 | chr7:66307208-66307258 | H1-hESC | embryonic stem cell: | embryo |
| 39 | chr7:66307208-66307258 | GM12892 | blood: | n/a |
| 40 | chr7:66307208-66307258 | Jurkat | blood: | n/a |
| 41 | chr7:66307208-66307258 | GM12891 | blood: | n/a |
| 42 | chr7:66307208-66307258 | HCPEpiC | choroid plexus: | n/a |
| 43 | chr7:66307208-66307258 | HRPEpiC | eye: | n/a |
| 44 | chr7:66307208-66307258 | NHBE | bronchial: | n/a |
| 45 | chr7:66307208-66307258 | SK-N-MC | brain: | n/a |
| 46 | chr7:66307208-66307258 | GM06990 | blood: | n/a |
| 47 | chr7:66307208-66307258 | HCT-116 | colon: | n/a |
| 48 | chr7:66307208-66307258 | NT2-D1 | testis: | n/a |
| 49 | chr7:66307208-66307258 | AG04449 | skin: | fetal |
| 50 | chr7:66307208-66307258 | GM12878 | blood: | n/a |
(count:7 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:66302070..66304968-chr7:66306621..66309380,3 | MCF-7 | breast: | |
| 2 | chr7:66301720..66302584-chr7:66359647..66360430,2 | MCF-7 | breast: | |
| 3 | chr7:66301118..66302840-chr7:66307414..66309903,3 | MCF-7 | breast: | |
| 4 | chr7:66298677..66300616-chr7:66305358..66307359,2 | K562 | blood: | |
| 5 | chr7:66298677..66300616-chr7:66305358..66307359,2 | K562 | blood: | |
| 6 | chr7:66305123..66307515-chr7:66310267..66312023,2 | K562 | blood: | |
| 7 | chr7:66302070..66304968-chr7:66306621..66309380,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| GTF2IRD1P1 | TF binding region |
| GTF2IRD1P1 | CpG island |
| ENSG00000230583 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs577095683 | chr7:66293206-66293207 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs138341300 | chr7:66293209-66293210 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs182694022 | chr7:66293216-66293217 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs531460461 | chr7:66293222-66293223 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs548474931 | chr7:66293242-66293243 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs561116520 | chr7:66293263-66293264 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs149636215 | chr7:66293264-66293265 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs546668438 | chr7:66293277-66293278 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs572594522 | chr7:66293291-66293292 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs566661097 | chr7:66293298-66293299 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs574639491 | chr7:66293299-66293300 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs538766864 | chr7:66293319-66293320 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs368600054 | chr7:66293321-66293322 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs146142684 | chr7:66293331-66293332 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs540391462 | chr7:66293333-66293334 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs140034325 | chr7:66293369-66293370 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs538145691 | chr7:66293377-66293378 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs141907137 | chr7:66293380-66293381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs568040610 | chr7:66293383-66293384 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs185822586 | chr7:66293389-66293390 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs370531892 | chr7:66293401-66293402 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs62465688 | chr7:66293485-66293486 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 23 | rs545887906 | chr7:66293536-66293537 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs75490532 | chr7:66293550-66293551 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs529956957 | chr7:66293614-66293615 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs190630340 | chr7:66293636-66293637 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs541758370 | chr7:66293654-66293655 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs561678111 | chr7:66293729-66293730 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs530022635 | chr7:66293747-66293748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs148532074 | chr7:66293749-66293750 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs560115330 | chr7:66293750-66293751 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 32 | rs10265576 | chr7:66297039-66297040 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 33 | rs191541687 | chr7:66297043-66297044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 34 | rs113649985 | chr7:66297068-66297069 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 35 | rs557996408 | chr7:66297071-66297072 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 36 | rs182580318 | chr7:66297083-66297084 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 37 | rs545580260 | chr7:66297095-66297096 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 38 | rs141028947 | chr7:66297112-66297113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 39 | rs573947708 | chr7:66297189-66297190 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 40 | rs12113339 | chr7:66297190-66297191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 41 | rs561517436 | chr7:66297297-66297298 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 42 | rs367577228 | chr7:66297361-66297362 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 43 | rs60972148 | chr7:66297377-66297378 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
| 44 | rs550420156 | chr7:66297380-66297381 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 45 | rs112883232 | chr7:66297381-66297382 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 46 | rs572551826 | chr7:66297390-66297391 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 47 | rs545066831 | chr7:66297462-66297463 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 48 | rs564865620 | chr7:66297472-66297473 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 49 | rs187238331 | chr7:66297505-66297506 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 50 | rs192827932 | chr7:66297575-66297576 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:82)
| Disease | PMID | Source |
|---|---|---|
| Wilms tumour | 21544195 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Basal cell lymphoma | 17170743 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Stenocardia | 21860640 | CNVD |
| Vasospasm | 21860640 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Williams-beuren syndrome | 22470819 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Glioblastoma multiforme | 21750150 | CNVD |
| Cancer | 21183584 | CNVD |
| Hepatocellular carcinoma | 16750200 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Hodgkin''s lymphoma | 18641027 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Malignant fibrous histiocytomas | 21085701 | CNVD |
| Astrocytoma | 22246337 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| Cancer | 20164920 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Schizophrenia | 21346763 | CNVD |
| Ovarian cancer | 21781307 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Lung cancer | 21911935 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:66293200-66293600 | Enhancers | Foreskin Keratinocyte Primary Cells skin02 | Skin |
| 2 | chr7:66293200-66293600 | Enhancers | HMEC | breast |
| 3 | chr7:66293400-66293800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 4 | chr7:66297000-66298200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 5 | chr7:66297200-66298400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 6 | chr7:66297600-66298000 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 7 | chr7:66297600-66309000 | Weak transcription | Right Atrium | heart |
| 8 | chr7:66301600-66302800 | Active TSS | Spleen | Spleen |
| 9 | chr7:66302800-66303000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 10 | chr7:66302800-66303000 | Flanking Active TSS | Spleen | Spleen |
| 11 | chr7:66304400-66305800 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 12 | chr7:66304600-66304800 | Enhancers | HepG2 | liver |
| 13 | chr7:66304800-66305000 | Enhancers | Primary T cells fromperipheralblood | blood |
| 14 | chr7:66304800-66305000 | Flanking Active TSS | HepG2 | liver |
| 15 | chr7:66305000-66305600 | Enhancers | HepG2 | liver |
| 16 | chr7:66305600-66307800 | Weak transcription | HepG2 | liver |
| 17 | chr7:66305800-66308600 | Weak transcription | Primary Natural Killer cells fromperipheralblood | blood |
| 18 | chr7:66306400-66308600 | Weak transcription | Primary T cells fromperipheralblood | blood |
