Variant report
Variant | nsv945339 |
---|---|
Chromosome Location | chr1:227722545-227723542 |
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 | chr1:227718832..227721414-chr1:227723108..227725782,2 | K562 | blood: | |
2 | chr1:227721387..227723792-chr1:227750003..227751668,2 | MCF-7 | breast: | |
3 | chr1:227699513..227702199-chr1:227720616..227723558,2 | K562 | blood: | |
4 | chr1:227721537..227724263-chr1:227727527..227730135,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000181450 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs577402940 | chr1:227722575-227722576 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
2 | rs568893294 | chr1:227722584-227722585 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
3 | rs187078904 | chr1:227722588-227722589 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
4 | rs191522489 | chr1:227722590-227722591 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
5 | rs148212381 | chr1:227722651-227722652 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
6 | rs534955298 | chr1:227722654-227722655 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
7 | rs6657758 | chr1:227722822-227722823 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
8 | rs371113068 | chr1:227722850-227722851 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
9 | rs141157822 | chr1:227722955-227722956 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
10 | rs10799422 | chr1:227722961-227722962 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
11 | rs184496676 | chr1:227722972-227722973 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
12 | rs114319403 | chr1:227723025-227723026 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
13 | rs575235186 | chr1:227723110-227723111 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
14 | rs545650085 | chr1:227723176-227723177 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
15 | rs189365680 | chr1:227723191-227723192 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
16 | rs150707200 | chr1:227723210-227723211 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
17 | rs376232178 | chr1:227723220-227723221 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
18 | rs1817929 | chr1:227723292-227723293 | Weak transcription | Chromatin interactive region | 1 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs546505625 | chr1:227723302-227723303 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
20 | rs561806120 | chr1:227723309-227723310 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
21 | rs528968438 | chr1:227723318-227723319 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
22 | rs180860361 | chr1:227723448-227723449 | Weak transcription | Chromatin interactive region | 1 gene(s) | Overlapped CNVs | n/a |
23 | rs374596695 | chr1:227723529-227723530 | Weak transcription | Chromatin interactive 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 |
Mental retardation | 19951919 | CNVD |
Non-syndromic sensorineural hearing loss | 17873649 | CNVD |
Basal cell lymphoma | 17053054 | 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 |
Glioblastoma multiforme | 21138945 | CNVD |
Ovarian clear cell carcinoma | 21343371 | CNVD |
Cancer | 20164920 | CNVD |
Cancer | 17060936 | CNVD |
Myelofibrosis | 22110671 | CNVD |
abnormal development | 18461090 | CNVD |
Breast cancer | 21364760 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:227718600-227723200 | Weak transcription | Psoas Muscle | Psoas |
2 | chr1:227720800-227725800 | Weak transcription | Pancreas | Pancrea |
3 | chr1:227720800-227729200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
4 | chr1:227720800-227729200 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
5 | chr1:227721200-227725800 | Weak transcription | Aorta | Aorta |