Variant report
Variant | esv3355163 |
---|---|
Chromosome Location | chr1:175732529-175736727 |
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 |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:175732717..175735663-chr1:175737285..175738902,2 | 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 | rs528965499 | chr1:175732532-175732533 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs79074451 | chr1:175732586-175732587 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs563097714 | chr1:175732598-175732599 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs79742925 | chr1:175732624-175732625 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs551963037 | chr1:175732657-175732658 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs112248548 | chr1:175732685-175732686 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs183772815 | chr1:175732719-175732720 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
8 | rs547352742 | chr1:175732755-175732756 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs189133138 | chr1:175732800-175732801 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
10 | rs2986121 | chr1:175732870-175732871 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs10913075 | chr1:175732879-175732880 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
12 | rs570142283 | chr1:175732946-175732947 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs143869635 | chr1:175732949-175732950 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs569713625 | chr1:175732976-175732977 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs577972516 | chr1:175732981-175732982 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs148624803 | chr1:175732991-175732992 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs553778671 | chr1:175733018-175733019 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs193262015 | chr1:175733039-175733040 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
19 | rs562298951 | chr1:175733059-175733060 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs78978592 | chr1:175733060-175733061 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs562405930 | chr1:175733078-175733079 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs576092675 | chr1:175733094-175733095 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs545170950 | chr1:175733111-175733112 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs531459396 | chr1:175733128-175733129 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs547944435 | chr1:175733136-175733137 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs547711905 | chr1:175733160-175733161 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs185374550 | chr1:175733172-175733173 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs567885681 | chr1:175733193-175733194 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs550152023 | chr1:175733206-175733207 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs530297053 | chr1:175733238-175733239 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs76206140 | chr1:175733269-175733270 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs190319153 | chr1:175733272-175733273 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs547355920 | chr1:175733283-175733284 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs181712107 | chr1:175733335-175733336 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs538976593 | chr1:175733380-175733381 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs570022879 | chr1:175733410-175733411 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs539137105 | chr1:175733446-175733447 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs186012727 | chr1:175733476-175733477 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs571491825 | chr1:175733529-175733530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs113545370 | chr1:175733536-175733537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs554152304 | chr1:175733560-175733561 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs539646519 | chr1:175733632-175733633 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs72727631 | chr1:175733696-175733697 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs114360030 | chr1:175733776-175733777 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs539290437 | chr1:175733787-175733788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs556147008 | chr1:175733789-175733790 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs6686537 | chr1:175733843-175733844 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs139627744 | chr1:175733856-175733857 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs565115922 | chr1:175733868-175733869 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs572351176 | chr1:175733880-175733881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 17603634 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Liposarcoma | 21253554 | CNVD |
Burkitt''s lymphoma | 18698080 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21183584 | CNVD |
Multiple myeloma | 16461302 | CNVD |
Rett syndrome | 21593744 | CNVD |
Cancer | 20164919 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | CNVD |
Non-small cell lung cancer | 21829676 | CNVD |
Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Cervical cancer | 21063398 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Astrocytoma | 17387387 | CNVD |
Breast cancer | 20632083 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Gastrointestinal stromal cancer | 20470368 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Medulloblastoma | 21292688 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 21264507 | CNVD |
Multiple myeloma | 21628407 | CNVD |
Cancer | 16751803 | CNVD |
Prostate cancer | 16705090 | CNVD |
Neuroblastoma | 19435921 | CNVD |
Breast cancer | 17850661 | CNVD |
Breast cancer | 16461572 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Bladder cancer | 19088036 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Glioblastoma multiforme | 17002787 | CNVD |
Breast cancer | 21858162 | CNVD |
Retinoblastoma | 19183342 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Acute lymphoblastic leukemia | 21980252 | CNVD |
Breast cancer | 16608533 | CNVD |
Ewing''s sarcoma | 22429812 | CNVD |
Acute promyelocytic leukemia | 19109227 | CNVD |
Chordoma | 18071362 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Burkitt''s lymphoma | 19759907 | CNVD |
Acute myeloid leukemia | 21251322 | CNVD |
Multiple myeloma | 17550852 | CNVD |
Prostate cancer | 18632612 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Testicular germ cell tumor | 18059402 | CNVD |
Trisomy 5 syndrome | 21098271 | CNVD |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Developmental delay | 21147756 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
Breast cancer | 21509527 | CNVD |
Glioblastoma multiforme | 17369134 | CNVD |
Cancer | 17440070 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 21611746 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Autism | 22241247 | CNVD |
Breast cancer | 16397240 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:175701400-175738400 | Weak transcription | Right Atrium | heart |
2 | chr1:175720000-175744200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr1:175722400-175737200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
4 | chr1:175732200-175732800 | Enhancers | Fetal Brain Male | brain |
5 | chr1:175732200-175734600 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
6 | chr1:175732400-175733200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
7 | chr1:175732400-175733400 | Enhancers | Brain Germinal Matrix | brain |
8 | chr1:175732600-175732800 | Enhancers | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr1:175732800-175734600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
10 | chr1:175734000-175734400 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
11 | chr1:175734000-175734400 | Weak transcription | Pancreas | Pancrea |
12 | chr1:175734400-175734800 | ZNF genes & repeats | Pancreas | Pancrea |
13 | chr1:175734400-175735000 | ZNF genes & repeats | HUES6 Cell Line | embryonic stem cell |
14 | chr1:175734600-175734800 | Enhancers | iPS DF 6.9 Cell Line | embryonic stem cell |
15 | chr1:175734600-175735000 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |
16 | chr1:175734600-175735000 | Bivalent/Poised TSS | Breast Myoepithelial Primary Cells | Breast |
17 | chr1:175734600-175735000 | Bivalent/Poised TSS | Fetal Lung | lung |
18 | chr1:175734800-175735000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
19 | chr1:175735200-175735800 | Weak transcription | HUES6 Cell Line | embryonic stem cell |