Variant report
Variant | nsv550417 |
---|---|
Chromosome Location | chr10:37431253-37454376 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr10:37188694..37189693-chr10:37435453..37435966,2 | MCF-7 | breast: |
No data |
No data |
No data |
No data |
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs559848008 | chr10:37434621-37434622 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs528617060 | chr10:37434656-37434657 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs376606454 | chr10:37434664-37434665 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs207470807 | chr10:37434680-37434681 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs548419055 | chr10:37434696-37434697 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs547913764 | chr10:37434707-37434708 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs77293852 | chr10:37434717-37434718 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs79404099 | chr10:37434721-37434722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs150715575 | chr10:37434722-37434723 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs80218639 | chr10:37434740-37434741 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
11 | rs74773555 | chr10:37434742-37434743 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs74535533 | chr10:37434747-37434748 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs568625077 | chr10:37434751-37434752 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs78073867 | chr10:37434755-37434756 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs77836096 | chr10:37434756-37434757 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs77890855 | chr10:37434800-37434801 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs78591687 | chr10:37434804-37434805 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs187683305 | chr10:37434809-37434810 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs75055307 | chr10:37434813-37434814 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs370143017 | chr10:37434814-37434815 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs551256045 | chr10:37434817-37434818 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs74392916 | chr10:37434823-37434824 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs77143875 | chr10:37434890-37434891 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs570815556 | chr10:37434891-37434892 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs79570721 | chr10:37434898-37434899 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs79544159 | chr10:37434909-37434910 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs75749506 | chr10:37434918-37434919 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs76920590 | chr10:37434921-37434922 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs539007244 | chr10:37434935-37434936 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs79818095 | chr10:37434938-37434939 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs79265153 | chr10:37434945-37434946 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs77114632 | chr10:37434951-37434952 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs76336998 | chr10:37434953-37434954 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs75873377 | chr10:37434958-37434959 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs72787526 | chr10:37434989-37434990 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs552564777 | chr10:37435003-37435004 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs540412350 | chr10:37435005-37435006 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs72787528 | chr10:37435012-37435013 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs72787529 | chr10:37435018-37435019 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs372748922 | chr10:37435043-37435044 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs562376708 | chr10:37435044-37435045 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs572576473 | chr10:37435054-37435055 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs74794650 | chr10:37435065-37435066 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
44 | rs143003679 | chr10:37435099-37435100 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs74605960 | chr10:37435112-37435113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs78086286 | chr10:37435113-37435114 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs370276213 | chr10:37435129-37435130 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
48 | rs75280833 | chr10:37435149-37435150 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs77932629 | chr10:37435185-37435186 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs78659201 | chr10:37435190-37435191 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 17603634 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Pancreatic endocrine tumor | 17639061 | CNVD |
Gastric cancer | 17908304 | CNVD |
Chordoma | 21602918 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Melanoma | 18172304 | CNVD |
Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
Lung cancer | 18438408 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Oral cancer | 21386901 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 20724749 | CNVD |
Autism | 22495311 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Behavioral abnormalities | 21522184 | CNVD |
Dysmorphic features | 21522184 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Bethlem myopathy | 20302629 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hepatocellular carcinoma | 16785998 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Barrett''s adenocarcinoma | 18663352 | CNVD |
Breast cancer | 21364760 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr10:37434600-37436000 | Enhancers | A549 | lung |
2 | chr10:37435200-37435600 | Bivalent Enhancer | iPS-20b Cell Line | embryonic stem cell |
3 | chr10:37435200-37435800 | Enhancers | ES-WA7 Cell Line | embryonic stem cell |
4 | chr10:37435200-37435800 | Bivalent Enhancer | iPS-18 Cell Line | embryonic stem cell |
5 | chr10:37435600-37436200 | Bivalent/Poised TSS | iPS-20b Cell Line | embryonic stem cell |
6 | chr10:37436000-37439000 | Weak transcription | A549 | lung |
7 | chr10:37439000-37439400 | Active TSS | A549 | lung |
8 | chr10:37439400-37441200 | Weak transcription | A549 | lung |
9 | chr10:37441200-37441400 | Enhancers | A549 | lung |
10 | chr10:37446400-37447200 | Weak transcription | A549 | lung |
11 | chr10:37447800-37448400 | ZNF genes & repeats | A549 | lung |
12 | chr10:37448400-37454800 | Weak transcription | A549 | lung |