Variant report
| Variant | esv3437766 |
|---|---|
| Chromosome Location | chr7:136368362-136369460 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs564238291 | chr7:136368373-136368374 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs192478328 | chr7:136368380-136368381 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs546641415 | chr7:136368532-136368533 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs200299190 | chr7:136368549-136368550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs566550269 | chr7:136368572-136368573 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs561943622 | chr7:136368579-136368580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs527909338 | chr7:136368586-136368587 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs547855939 | chr7:136368601-136368602 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs538764801 | chr7:136368619-136368620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs143966589 | chr7:136368665-136368666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs569166799 | chr7:136368721-136368722 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs10249076 | chr7:136368796-136368797 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 13 | rs6467678 | chr7:136368797-136368798 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs188313944 | chr7:136368818-136368819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs539573001 | chr7:136368869-136368870 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs144289193 | chr7:136368944-136368945 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs573367443 | chr7:136368952-136368953 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs542010340 | chr7:136368966-136368967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs552326880 | chr7:136368970-136368971 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs562094292 | chr7:136369001-136369002 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs533492568 | chr7:136369040-136369041 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs575512741 | chr7:136369113-136369114 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs543842221 | chr7:136369145-136369146 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs192962986 | chr7:136369161-136369162 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs148314945 | chr7:136369166-136369167 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs184633061 | chr7:136369170-136369171 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs546385147 | chr7:136369245-136369246 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs560181988 | chr7:136369246-136369247 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 29 | rs565913761 | chr7:136369277-136369278 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 30 | rs114288960 | chr7:136369289-136369290 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 31 | rs10279562 | chr7:136369412-136369413 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 32 | rs535742911 | chr7:136369431-136369432 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:81)
| 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 |
| Adenocarcinoma | 21044232 | 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 | 21509527 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 22286061 | CNVD |
| Low-grade fibromyxoid sarcoma | 21536545 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Myxofibrosarcoma | 16751306 | CNVD |
| Stuttering | 21108403 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Urothelial carcinoma | 18382360 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Myelodysplastic syndrome | 17634407 | CNVD |
| Acute myeloid leukemia | 17237825 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:136367400-136370200 | Weak transcription | Brain Germinal Matrix | brain |
