Variant report

Variant	esv3432579
Chromosome Location	chr4:132132396-132158131
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	chr4:132149758..132152174-chr4:132152925..132155789,2	MCF-7	breast:
2	chr4:132149758..132152174-chr4:132152925..132155789,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536633268	chr4:132153420-132153421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189805523	chr4:132153532-132153533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566968656	chr4:132153538-132153539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539178748	chr4:132153545-132153546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34696537	chr4:132153559-132153560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558794930	chr4:132153574-132153575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116121294	chr4:132153607-132153608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539312844	chr4:132153651-132153652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555226117	chr4:132153659-132153660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551362491	chr4:132153758-132153759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368321957	chr4:132153770-132153771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182104699	chr4:132153787-132153788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188019630	chr4:132153798-132153799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558960979	chr4:132153839-132153840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572515007	chr4:132153862-132153863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544657445	chr4:132153864-132153865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534128196	chr4:132153870-132153871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564850123	chr4:132153878-132153879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375221600	chr4:132153883-132153884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558854661	chr4:132153913-132153914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550537119	chr4:132153918-132153919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191294342	chr4:132153984-132153985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554008342	chr4:132155205-132155206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144295759	chr4:132155231-132155232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538608537	chr4:132155277-132155278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558316681	chr4:132155285-132155286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191284742	chr4:132155305-132155306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377425545	chr4:132155318-132155319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543931534	chr4:132155347-132155348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376198585	chr4:132155355-132155356	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554710842	chr4:132155356-132155357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574660652	chr4:132155360-132155361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540450052	chr4:132155399-132155400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540567029	chr4:132155418-132155419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113583157	chr4:132155440-132155441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532347916	chr4:132155443-132155444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184273828	chr4:132155537-132155538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs377292900	chr4:132155543-132155544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562696742	chr4:132155563-132155564	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531733427	chr4:132155564-132155565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141285552	chr4:132155575-132155576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs189637268	chr4:132155611-132155612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527862120	chr4:132155693-132155694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547613935	chr4:132155772-132155773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570807566	chr4:132155773-132155774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34936034	chr4:132155795-132155796	Active TSS	n/a	n/a	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
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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132153400-132154000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:132155200-132155800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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