Variant report
| Variant | esv3437674 |
|---|---|
| Chromosome Location | chr7:101250532-101251680 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr7:101244039..101255564-chr7:101454524..101463981,21 | MCF-7 | breast: | |
| 2 | chr7:101249674..101252052-chr7:101267585..101269354,2 | K562 | blood: | |
| 3 | chr7:101248988..101252731-chr7:101456839..101459495,3 | MCF-7 | breast: | |
| 4 | chr7:101245631..101247804-chr7:101249820..101253085,4 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000257923 | chromatin interactions |
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs530546142 | chr7:101250536-101250537 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 2 | rs141268595 | chr7:101250575-101250576 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 3 | rs12535019 | chr7:101250617-101250618 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs111954964 | chr7:101250644-101250645 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 5 | rs370925615 | chr7:101250669-101250670 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 6 | rs546583316 | chr7:101250672-101250673 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 7 | rs568391654 | chr7:101250689-101250690 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 8 | rs535740298 | chr7:101250738-101250739 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 9 | rs190126420 | chr7:101250747-101250748 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 10 | rs538742420 | chr7:101250749-101250750 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 11 | rs28561887 | chr7:101250764-101250765 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 12 | rs367976121 | chr7:101250767-101250768 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 13 | rs537558098 | chr7:101250775-101250776 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 14 | rs34686240 | chr7:101250782-101250783 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 15 | rs577368904 | chr7:101250821-101250822 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 16 | rs572534024 | chr7:101250828-101250829 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 17 | rs28396527 | chr7:101250888-101250889 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 18 | rs201988551 | chr7:101250964-101250965 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 19 | rs554239067 | chr7:101250965-101250966 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 20 | rs149598075 | chr7:101250972-101250973 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 21 | rs13247534 | chr7:101250974-101250975 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 22 | rs574825588 | chr7:101250976-101250977 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 23 | rs542092467 | chr7:101250982-101250983 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 24 | rs148884020 | chr7:101251037-101251038 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 25 | rs377127078 | chr7:101251038-101251039 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 26 | rs199946182 | chr7:101251052-101251053 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 27 | rs55708010 | chr7:101251054-101251055 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 28 | rs55662293 | chr7:101251055-101251056 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 29 | rs376865909 | chr7:101251069-101251070 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 30 | rs115813336 | chr7:101251143-101251144 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 31 | rs143687460 | chr7:101251159-101251160 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 32 | rs111386581 | chr7:101251216-101251217 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 33 | rs10253090 | chr7:101251233-101251234 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 34 | rs56155186 | chr7:101251278-101251279 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 35 | rs79157625 | chr7:101251293-101251294 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 36 | rs528172238 | chr7:101251295-101251296 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 37 | rs117402388 | chr7:101251308-101251309 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 38 | rs740198 | chr7:101251335-101251336 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 39 | rs140024612 | chr7:101251371-101251372 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 40 | rs556017718 | chr7:101251376-101251377 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 41 | rs550866228 | chr7:101251386-101251387 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 42 | rs371455696 | chr7:101251391-101251392 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 43 | rs34037970 | chr7:101251439-101251440 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 44 | rs573591956 | chr7:101251440-101251441 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 45 | rs537395741 | chr7:101251449-101251450 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 46 | rs552283819 | chr7:101251450-101251451 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 47 | rs73413491 | chr7:101251456-101251457 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
| 48 | rs182587967 | chr7:101251457-101251458 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 49 | rs553557876 | chr7:101251462-101251463 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
| 50 | rs143857494 | chr7:101251467-101251468 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
Variant related diseases (count:93)
| Disease | PMID | Source |
|---|---|---|
| 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 |
| 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 |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Gastric cancer | 24379144 | CNVD |
| Glioblastoma multiforme | 17002787 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Lissencephaly | 21572526 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Breast cancer | 16397240 | CNVD |
| Acute myeloid leukemia | 16864856 | 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 |
| small cell lung cancer | 20016488 | 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 |
| Metanephric adenoma | 20802469 | CNVD |
| Prostate cancer | 16461572 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Malignant melanoma | 17260012 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 21785460 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Bladder cancer | 21909424 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Primary central nervous system lymphoma | 21088137 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
| Adenocarcinoma | 19607727 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Emphysema | 19352772 | CNVD |
| Effusion lymphoma | 18079361 | CNVD |
| Medulloblastoma | 17653508 | CNVD |
| Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
| Autism | 19401682 | CNVD |
| Neuroticism | 17667963 | CNVD |
| Chronic lymphocytic leukemia | 22228453 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| T-cell lymphomas | 22341440 | CNVD |
| Cancer | 19907438 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Melanoma | 20877625 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:101242800-101251600 | Weak transcription | Gastric | stomach |
| 2 | chr7:101245600-101250600 | Enhancers | Placenta | Placenta |
| 3 | chr7:101246400-101251600 | Weak transcription | Stomach Mucosa | stomach |
| 4 | chr7:101246400-101251800 | Weak transcription | Pancreas | Pancrea |
| 5 | chr7:101246400-101252000 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 6 | chr7:101246400-101252000 | Weak transcription | Fetal Intestine Small | intestine |
| 7 | chr7:101246600-101251600 | Weak transcription | HMEC | breast |
| 8 | chr7:101246600-101251800 | Weak transcription | H1 Cell Line | embryonic stem cell |
| 9 | chr7:101246600-101252000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
| 10 | chr7:101249200-101251800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 11 | chr7:101249200-101252000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
| 12 | chr7:101249600-101251800 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
| 13 | chr7:101250000-101251600 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
| 14 | chr7:101250400-101251600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 15 | chr7:101250400-101251600 | Weak transcription | Placenta Amnion | Placenta Amnion |
| 16 | chr7:101250600-101251600 | Weak transcription | Placenta | Placenta |
| 17 | chr7:101251000-101252000 | Weak transcription | Fetal Intestine Large | intestine |
| 18 | chr7:101251600-101252000 | Enhancers | Rectal Mucosa Donor 29 | rectum |
| 19 | chr7:101251600-101252600 | Enhancers | Gastric | stomach |
| 20 | chr7:101251600-101252600 | Enhancers | Placenta Amnion | Placenta Amnion |
| 21 | chr7:101251600-101252800 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
| 22 | chr7:101251600-101252800 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
| 23 | chr7:101251600-101252800 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 24 | chr7:101251600-101252800 | Enhancers | Placenta | Placenta |
| 25 | chr7:101251600-101252800 | Enhancers | Stomach Mucosa | stomach |
| 26 | chr7:101251600-101252800 | Enhancers | HMEC | breast |
