Variant report
| Variant | nsv442071 |
|---|---|
| Chromosome Location | chr7:140192861-140199012 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:140175249..140176269-chr7:140192550..140193514,8 | K562 | blood: | |
| 2 | chr7:140177025..140179254-chr7:140191554..140194261,2 | K562 | blood: | |
| 3 | chr7:140188257..140190605-chr7:140190654..140192972,3 | K562 | blood: | |
| 4 | chr7:140177802..140179914-chr7:140192649..140195054,2 | MCF-7 | breast: | |
| 5 | chr7:140177440..140179360-chr7:140192962..140194522,2 | MCF-7 | breast: | |
| 6 | chr7:140175277..140176182-chr7:140192249..140193505,5 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000133606 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535439065 | chr7:140192871-140192872 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs180910785 | chr7:140192949-140192950 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs185310102 | chr7:140192992-140192993 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 4 | rs553529976 | chr7:140192996-140192997 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs74323019 | chr7:140193038-140193039 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs191434633 | chr7:140193039-140193040 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs564472185 | chr7:140193055-140193056 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs531837731 | chr7:140193119-140193120 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs373446272 | chr7:140193136-140193137 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs575780812 | chr7:140193149-140193150 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs543794877 | chr7:140193150-140193151 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs543413323 | chr7:140193155-140193156 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs7777753 | chr7:140193159-140193160 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs386718470 | chr7:140193188-140193189 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs548140978 | chr7:140193189-140193190 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs368263127 | chr7:140193193-140193194 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs386718471 | chr7:140193194-140193195 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs7792629 | chr7:140193198-140193199 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 19 | rs4726837 | chr7:140193213-140193214 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 20 | rs570410785 | chr7:140193225-140193226 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs146952387 | chr7:140193261-140193262 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs7806816 | chr7:140193293-140193294 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 23 | rs386718472 | chr7:140193329-140193330 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs111274442 | chr7:140193330-140193331 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs7792790 | chr7:140193331-140193332 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 26 | rs553691808 | chr7:140193362-140193363 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs112070978 | chr7:140193370-140193371 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs191890537 | chr7:140193373-140193374 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs557944312 | chr7:140193413-140193414 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs113450539 | chr7:140193416-140193417 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs186482747 | chr7:140193428-140193429 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs561917434 | chr7:140193449-140193450 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs189683124 | chr7:140193478-140193479 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 34 | rs541739743 | chr7:140193583-140193584 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs560040716 | chr7:140193584-140193585 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs151194944 | chr7:140193586-140193587 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs7783010 | chr7:140193615-140193616 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 38 | rs546879482 | chr7:140193629-140193630 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 39 | rs182299925 | chr7:140193673-140193674 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs531286933 | chr7:140193681-140193682 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs568213801 | chr7:140193693-140193694 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs374837351 | chr7:140193705-140193706 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs187135323 | chr7:140193712-140193713 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs535126104 | chr7:140193765-140193766 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs35901185 | chr7:140193799-140193800 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs575419736 | chr7:140193800-140193801 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs12536163 | chr7:140193813-140193814 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs546994961 | chr7:140193856-140193857 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs367907879 | chr7:140193864-140193865 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs10952698 | chr7:140193871-140193872 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:108)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| Medulloblastoma | 21979893 | 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 |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | 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 |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Melanoma | 19188590 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| abnormal development | 18461090 | CNVD |
| T-cell acute lymphoblastic leukemia | 18185524 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Coffin-Siris syndrome | 21572526 | CNVD |
| Papillary thyroid carcinoma | 21436994 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 18496225 | CNVD |
| Hodgkin''s lymphoma | 18179710 | CNVD |
| High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Stuttering | 21108403 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Cancer | 21129771 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| T-cell acute lymphoblastic leukemia | 20065082 | CNVD |
| T-cell acute lymphoblastic leukemia | 16673021 | CNVD |
| Cancer | 21183584 | CNVD |
| Intracranial ependymoma | 16609018 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Developmental delay | 19490664 | CNVD |
| Pancreatitis | 20877625 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Low-grade astrocytoma | 19016743 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| Pilocytic astrocytoma | 18408760 | CNVD |
| Idiopathic chronic pancreatitis | 19584086 | CNVD |
| Pediatric low-grade astrocytoma | 19016743 | CNVD |
| Acute lymphoblastic leukemia | 17315016 | CNVD |
| Gastric cancer | 16891809 | CNVD |
| Cancer | 17440070 | CNVD |
| Astrocytoma | 18398503 | CNVD |
| Melanoma | 19671679 | CNVD |
| Lung adenocarcinoma | 19525976 | CNVD |
| Lung cancer | 19525976 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Schizophrenia | 17646849 | CNVD |
| Lung adenocarcinoma | 19826477 | CNVD |
| Lung cancer | 19826477 | CNVD |
| Melanoma | 19509136 | CNVD |
| Breast cancer | 20668451 | CNVD |
| Cancer | 20668451 | CNVD |
| Lung cancer | 20668451 | CNVD |
| Ovarian cancer | 20668451 | CNVD |
| Pancreas cancer | 20668451 | CNVD |
| Prostate cancer | 20668451 | CNVD |
| Melanoma | 20877625 | CNVD |
| Breast cancer | 22522925 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:140179800-140198000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 2 | chr7:140185400-140197000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
| 3 | chr7:140185800-140198000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 4 | chr7:140189000-140194800 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
| 5 | chr7:140189200-140194600 | Weak transcription | Primary monocytes fromperipheralblood | blood |
| 6 | chr7:140192200-140206800 | Weak transcription | Right Atrium | heart |
| 7 | chr7:140192800-140193000 | Enhancers | Colonic Mucosa | Colon |
| 8 | chr7:140192800-140193600 | Enhancers | Rectal Mucosa Donor 29 | rectum |
| 9 | chr7:140192800-140193600 | Enhancers | K562 | blood |
| 10 | chr7:140193000-140206600 | Weak transcription | Colonic Mucosa | Colon |
| 11 | chr7:140193600-140195400 | Weak transcription | K562 | blood |
| 12 | chr7:140193600-140198000 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
| 13 | chr7:140194600-140195600 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 14 | chr7:140194800-140195600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
| 15 | chr7:140195400-140195800 | Enhancers | Gastric | stomach |
| 16 | chr7:140195400-140196000 | Enhancers | K562 | blood |
| 17 | chr7:140196000-140201800 | Weak transcription | K562 | blood |
| 18 | chr7:140197000-140197400 | Enhancers | Sigmoid Colon | Sigmoid Colon |
| 19 | chr7:140197200-140197400 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 20 | chr7:140197800-140198200 | Enhancers | Duodenum Mucosa | Duodenum |
| 21 | chr7:140198000-140198200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
| 22 | chr7:140198000-140198200 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 23 | chr7:140198000-140198400 | Enhancers | Rectal Mucosa Donor 29 | rectum |
| 24 | chr7:140198000-140198400 | Enhancers | Rectal Mucosa Donor 31 | rectum |
| 25 | chr7:140198200-140199400 | Weak transcription | Duodenum Mucosa | Duodenum |
| 26 | chr7:140198200-140202000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 27 | chr7:140198400-140202000 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 28 | chr7:140198400-140206400 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
