Variant report

Variant	esv3448689
Chromosome Location	chr4:125671052-125673050
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	chr4:125632600..125635495-chr4:125669372..125672069,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542340036	chr4:125671062-125671063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560562812	chr4:125671107-125671108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569744525	chr4:125671109-125671110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185104130	chr4:125671154-125671155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189951824	chr4:125671156-125671157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370321265	chr4:125671220-125671221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564822325	chr4:125671221-125671222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192697561	chr4:125671245-125671246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72682114	chr4:125671255-125671256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568510686	chr4:125671300-125671301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184642619	chr4:125671308-125671309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547868903	chr4:125671312-125671313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72912728	chr4:125671316-125671317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557809345	chr4:125671323-125671324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534012951	chr4:125671354-125671355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552052881	chr4:125671355-125671356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577865539	chr4:125671373-125671374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112012657	chr4:125671385-125671386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570734061	chr4:125671452-125671453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77339782	chr4:125671493-125671494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72682116	chr4:125671501-125671502	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374369200	chr4:125671518-125671519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574877304	chr4:125671519-125671520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114075984	chr4:125671529-125671530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115753974	chr4:125671533-125671534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141926943	chr4:125671575-125671576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73845282	chr4:125671644-125671645	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188103581	chr4:125671652-125671653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573800559	chr4:125671678-125671679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10029988	chr4:125671714-125671715	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543700415	chr4:125671722-125671723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201759932	chr4:125671752-125671753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200273237	chr4:125671753-125671754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201058778	chr4:125671756-125671757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529621240	chr4:125671799-125671800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181988656	chr4:125671818-125671819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560210185	chr4:125671894-125671895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527356182	chr4:125671901-125671902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71608200	chr4:125671981-125671982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570550222	chr4:125672002-125672003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534344449	chr4:125672040-125672041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs202245082	chr4:125672057-125672058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125668000-125672000	Weak transcription	Aorta	Aorta
2	chr4:125671000-125671400	Enhancers	Fetal Lung	lung

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