Variant report

Variant	esv3389431
Chromosome Location	chr4:151091125-151091589
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	chr4:151084738..151086505-chr4:151089545..151091650,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569681404	chr4:151091167-151091168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538670699	chr4:151091186-151091187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558386044	chr4:151091230-151091231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139287963	chr4:151091246-151091247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376191669	chr4:151091300-151091301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143302662	chr4:151091308-151091309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185212330	chr4:151091330-151091331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531046559	chr4:151091386-151091387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189633822	chr4:151091388-151091389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183217675	chr4:151091423-151091424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28625200	chr4:151091451-151091452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567558218	chr4:151091473-151091474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532114676	chr4:151091474-151091475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11946241	chr4:151091477-151091478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs112463360	chr4:151091491-151091492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138628039	chr4:151091492-151091493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199844276	chr4:151091497-151091498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77632108	chr4:151091500-151091501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547821313	chr4:151091507-151091508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28417141	chr4:151091514-151091515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs28620740	chr4:151091540-151091541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550221846	chr4:151091550-151091551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188227169	chr4:151091553-151091554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151071400-151091400	Weak transcription	Osteobl	bone
3	chr4:151071600-151091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:151074400-151091800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:151074400-151094200	Weak transcription	NH-A	brain
6	chr4:151074600-151094000	Weak transcription	HSMMtube	muscle
7	chr4:151074600-151094600	Weak transcription	HSMM	muscle
8	chr4:151081400-151094200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:151081400-151096600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:151085400-151094200	Enhancers	Brain Germinal Matrix	brain
11	chr4:151085400-151097400	Weak transcription	Ovary	ovary
12	chr4:151086600-151091800	Weak transcription	NHDF-Ad	bronchial
13	chr4:151087200-151093000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:151087200-151093800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:151087200-151094600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:151088600-151091400	Weak transcription	A549	lung
17	chr4:151088600-151094000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:151088600-151094000	Weak transcription	Fetal Brain Female	brain
19	chr4:151088600-151094000	Weak transcription	Fetal Stomach	stomach
20	chr4:151088600-151094000	Weak transcription	HUVEC	blood vessel
21	chr4:151088600-151094400	Weak transcription	Right Atrium	heart
22	chr4:151088800-151092600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:151088800-151094000	Weak transcription	Brain Angular Gyrus	brain
24	chr4:151088800-151094000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:151088800-151094200	Weak transcription	Fetal Brain Male	brain
26	chr4:151088800-151094200	Weak transcription	Fetal Lung	lung
27	chr4:151088800-151094200	Weak transcription	Left Ventricle	heart
28	chr4:151088800-151094200	Weak transcription	Right Ventricle	heart
29	chr4:151089000-151091600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:151089000-151094000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:151089000-151094200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:151089000-151094200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:151089000-151094200	Weak transcription	Lung	lung
34	chr4:151089200-151094200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:151089200-151097000	Weak transcription	Aorta	Aorta
36	chr4:151089800-151094000	Weak transcription	Fetal Heart	heart
37	chr4:151090600-151094000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:151090600-151094200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:151091400-151092200	Enhancers	A549	lung
40	chr4:151091400-151092200	Enhancers	Osteobl	bone

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