Variant report
Variant | esv3453771 |
---|---|
Chromosome Location | chr1:228625827-228626362 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:228599056..228601074-chr1:228624677..228626695,2 | MCF-7 | breast: | |
2 | chr1:228621623..228626960-chr1:228627628..228631034,6 | MCF-7 | breast: | |
3 | chr1:228609519..228611466-chr1:228625184..228626953,2 | MCF-7 | breast: | |
4 | chr1:228593134..228595481-chr1:228624231..228626300,2 | MCF-7 | breast: | |
5 | chr1:228625816..228628902-chr1:228643355..228647271,4 | MCF-7 | breast: | |
6 | chr1:228596814..228599008-chr1:228623663..228627095,3 | MCF-7 | breast: | |
7 | chr1:228607475..228609992-chr1:228623934..228625967,2 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000181218 | chromatin interactions |
ENSG00000231563 | chromatin interactions |
ENSG00000154370 | chromatin interactions |
ENSG00000196890 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs541453772 | chr1:228625878-228625879 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
2 | rs10916313 | chr1:228625882-228625883 | Enhancers | Chromatin interactive region | 4 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs530160924 | chr1:228625932-228625933 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
4 | rs375161173 | chr1:228625933-228625934 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
5 | rs79451505 | chr1:228625977-228625978 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
6 | rs558049677 | chr1:228625981-228625982 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
7 | rs576426493 | chr1:228625982-228625983 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
8 | rs149334447 | chr1:228625983-228625984 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
9 | rs149462701 | chr1:228625985-228625986 | Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
10 | rs563879715 | chr1:228626002-228626003 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
11 | rs386369898 | chr1:228626003-228626004 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
12 | rs527595846 | chr1:228626004-228626005 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
13 | rs552439247 | chr1:228626029-228626030 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
14 | rs112426104 | chr1:228626030-228626031 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
15 | rs144813600 | chr1:228626031-228626032 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
16 | rs533544150 | chr1:228626065-228626066 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
17 | rs114800737 | chr1:228626172-228626173 | Bivalent Enhancer Enhancers | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
18 | rs201600941 | chr1:228626249-228626250 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
19 | rs200144071 | chr1:228626260-228626261 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 4 gene(s) | Overlapped CNVs | n/a |
20 | rs563787545 | chr1:228626316-228626317 | Bivalent Enhancer Enhancers Weak transcription | Chromatin interactive region | 2 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 |
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 |
Melanoma | 17363583 | CNVD |
Breast cancer | 22522925 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:228624400-228626200 | Enhancers | Foreskin Melanocyte Primary Cells skin01 | Skin |
2 | chr1:228625600-228626800 | Enhancers | Primary T helper 17 cells PMA-I stimulated | -- |
3 | chr1:228625800-228626400 | Enhancers | Primary T helper cells PMA-I stimulated | -- |
4 | chr1:228626000-228626400 | Enhancers | Primary T helper memory cells from peripheral blood 1 | blood |
5 | chr1:228626000-228626400 | Enhancers | Primary T cells effector/memory enriched fromperipheralblood | blood |
6 | chr1:228626000-228626600 | Enhancers | Primary T helper memory cells from peripheral blood 2 | blood |
7 | chr1:228626000-228626800 | Bivalent Enhancer | Primary T cells fromperipheralblood | blood |
8 | chr1:228626200-228626800 | Enhancers | Spleen | Spleen |
9 | chr1:228626200-228633200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |