Variant report

Variant	nsv290442
Chromosome Location	chr4:111147935-111148650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111118193..111120933-chr4:111147777..111149397,2	MCF-7	breast:
2	chr4:111147107..111150341-chr4:111152567..111154643,3	K562	blood:

Variant related genes	Relation type
ENSG00000170522	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62327369	chr4:111147936-111147937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs147629940	chr4:111148000-111148001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79138053	chr4:111148022-111148023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192600494	chr4:111148066-111148067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185558117	chr4:111148104-111148105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569675434	chr4:111148105-111148106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140883397	chr4:111148160-111148161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548715727	chr4:111148168-111148169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374451237	chr4:111148227-111148228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565626423	chr4:111148241-111148242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7699694	chr4:111148274-111148275	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113473408	chr4:111148275-111148276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7699425	chr4:111148306-111148307	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145559187	chr4:111148319-111148320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559124436	chr4:111148323-111148324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576468243	chr4:111148402-111148403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542261550	chr4:111148471-111148472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112413190	chr4:111148483-111148484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189212520	chr4:111148485-111148486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34605697	chr4:111148487-111148488	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564018697	chr4:111148504-111148505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111445103	chr4:111148548-111148549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115002595	chr4:111148605-111148606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371842502	chr4:111148625-111148626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369230613	chr4:111148650-111148651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111141400-111148800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:111146400-111151000	Weak transcription	Osteobl	bone

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