Variant report
Variant | esv3453128 |
---|---|
Chromosome Location | chr1:175070329-175078527 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:5 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:175077823..175080085-chr1:175081548..175084338,3 | K562 | blood: | |
2 | chr1:175077506..175079418-chr1:175085244..175087503,2 | K562 | blood: | |
3 | chr1:175069058..175070740-chr1:175082430..175084040,2 | K562 | blood: | |
4 | chr1:174738634..174740164-chr1:175067816..175070617,2 | K562 | blood: | |
5 | chr1:175077823..175079670-chr1:175081548..175083475,2 | K562 | blood: |
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 | rs568222479 | chr1:175070331-175070332 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs375070890 | chr1:175070341-175070342 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
3 | rs537253436 | chr1:175070352-175070353 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs367756878 | chr1:175070365-175070366 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs183044637 | chr1:175070366-175070367 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs186277805 | chr1:175070411-175070412 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs553028992 | chr1:175070412-175070413 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs572924291 | chr1:175070432-175070433 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs541789758 | chr1:175070438-175070439 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs191541115 | chr1:175070440-175070441 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs575803700 | chr1:175070441-175070442 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs544878655 | chr1:175070442-175070443 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs564556911 | chr1:175070450-175070451 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs533546578 | chr1:175070455-175070456 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs183396822 | chr1:175070465-175070466 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs546539478 | chr1:175070473-175070474 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs528101737 | chr1:175070481-175070482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs548160848 | chr1:175070514-175070515 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs367693775 | chr1:175070515-175070516 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs376006627 | chr1:175070516-175070517 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs58899065 | chr1:175070518-175070519 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs568043455 | chr1:175070529-175070530 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
23 | rs12744451 | chr1:175070534-175070535 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
24 | rs550837936 | chr1:175070543-175070544 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
25 | rs570583070 | chr1:175070567-175070568 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
26 | rs192756024 | chr1:175070570-175070571 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
27 | rs552119044 | chr1:175070571-175070572 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
28 | rs553069930 | chr1:175070582-175070583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
29 | rs566587791 | chr1:175070619-175070620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
30 | rs61827442 | chr1:175070660-175070661 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
31 | rs56288321 | chr1:175070665-175070666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
32 | rs529798981 | chr1:175070670-175070671 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
33 | rs575577156 | chr1:175070735-175070736 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
34 | rs544604750 | chr1:175070736-175070737 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
35 | rs558399311 | chr1:175070748-175070749 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
36 | rs578225445 | chr1:175070751-175070752 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
37 | rs61827443 | chr1:175070822-175070823 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
38 | rs540789475 | chr1:175070877-175070878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
39 | rs201980299 | chr1:175070901-175070902 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
40 | rs559493309 | chr1:175070912-175070913 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
41 | rs528241159 | chr1:175070948-175070949 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
42 | rs541935758 | chr1:175071003-175071004 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
43 | rs561564467 | chr1:175071018-175071019 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
44 | rs554686431 | chr1:175071026-175071027 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
45 | rs574321726 | chr1:175071035-175071036 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
46 | rs12083913 | chr1:175071049-175071050 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
47 | rs7526747 | chr1:175071061-175071062 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
48 | rs7526749 | chr1:175071068-175071069 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
49 | rs532973290 | chr1:175071101-175071102 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
50 | rs114874239 | chr1:175071102-175071103 | 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 |
Breast cancer | 22522925 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:175062400-175071400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr1:175071400-175071600 | ZNF genes & repeats | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr1:175075800-175076200 | Active TSS | K562 | blood |