Variant report
Variant | esv16888 |
---|---|
Chromosome Location | chr1:225075528-225081091 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:3)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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Variant related genes | Relation type |
---|---|
DNAH14 | TF binding region |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs138807832 | chr1:225078985-225078986 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs549932819 | chr1:225079000-225079001 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs187616185 | chr1:225079543-225079544 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs12563434 | chr1:225079550-225079551 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
5 | rs559635322 | chr1:225079555-225079556 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs560827213 | chr1:225079560-225079561 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs114868098 | chr1:225079647-225079648 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs111902484 | chr1:225079703-225079704 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs563615810 | chr1:225079705-225079706 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs571546287 | chr1:225079709-225079710 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
11 | rs552612494 | chr1:225079723-225079724 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs192540497 | chr1:225079735-225079736 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs138530965 | chr1:225079760-225079761 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs115071321 | chr1:225079769-225079770 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs10799281 | chr1:225079770-225079771 | Inactive region | TF binding region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
16 | rs529087147 | chr1:225079794-225079795 | Inactive region | TF binding region | 1 gene(s) | Overlapped CNVs | n/a |
Disease | PMID | Source |
---|---|---|
Esophageal squamous carcinoma | 21637470 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Schizophrenia | 19415332 | CNVD |
Autism | 22495311 | CNVD |
Melanoma | 18172304 | CNVD |
Rett syndrome | 21593744 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Cancer | 20164919 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 17133270 | 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 |
Liposarcoma | 21253554 | 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 |
Breast cancer | 17603634 | CNVD |
Neuroblastoma | 21899760 | CNVD |
Breast cancer | 21858162 | 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 |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Breast cancer | 17001317 | 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 |
Ependymoma | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Acute lymphoblastic leukemia | 19100363 | CNVD |
Breast cancer | 21509527 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Chordoma | 18071362 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Hepatocellular carcinoma | 18803288 | CNVD |
Urothelial tumor | 18831757 | CNVD |
Lung cancer | 18438408 | CNVD |
Medulloblastoma | 16783165 | CNVD |
Basal cell lymphoma | 17170743 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Mental retardation | 19951919 | CNVD |
Non-syndromic sensorineural hearing loss | 17873649 | CNVD |
Basal cell lymphoma | 17053054 | CNVD |
Developmental delay | 21147756 | CNVD |
Autism | 14699429 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Fumarase deficiency | 21572526 | CNVD |
Autism | 17483303 | CNVD |
Kartagener syndrome | 16639409 | CNVD |
Congenital abnormalities | 21549014 | CNVD |
Developmental delay | 21549014 | CNVD |
Mental retardation | 21549014 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Liver carcinoma | 19366792 | CNVD |
Leukoplakia | 24403051 | CNVD |
Congenital diaphragmatic hernia | 21525063 | CNVD |
Glioblastoma multiforme | 21138945 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 17060936 | CNVD |