Variant report

Variant	esv3466405
Chromosome Location	chr4:152778511-152778997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372207634	chr4:152778525-152778526	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375530877	chr4:152778526-152778527	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546939373	chr4:152778539-152778540	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182378308	chr4:152778568-152778569	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150523879	chr4:152778573-152778574	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17027947	chr4:152778691-152778692	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187990093	chr4:152778694-152778695	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536760646	chr4:152778697-152778698	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530560251	chr4:152778698-152778699	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555424230	chr4:152778720-152778721	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs244404	chr4:152778727-152778728	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534808380	chr4:152778758-152778759	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553341017	chr4:152778767-152778768	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139542732	chr4:152778772-152778773	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545239880	chr4:152778795-152778796	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149717469	chr4:152778814-152778815	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146736987	chr4:152778815-152778816	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370566141	chr4:152778821-152778822	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542783666	chr4:152778842-152778843	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs17027948	chr4:152778845-152778846	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140383752	chr4:152778866-152778867	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528701155	chr4:152778877-152778878	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10021481	chr4:152778891-152778892	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372113455	chr4:152778921-152778922	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541235730	chr4:152778948-152778949	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553249641	chr4:152778972-152778973	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368237566	chr4:152778992-152778993	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Breast cancer	21785460	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
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152773600-152778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:152777200-152779200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:152778200-152778800	Enhancers	Fetal Lung	lung
4	chr4:152778400-152778600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:152778400-152778600	Flanking Active TSS	Ovary	ovary
6	chr4:152778400-152778800	Flanking Active TSS	Liver	Liver
7	chr4:152778400-152778800	Active TSS	Duodenum Mucosa	Duodenum
8	chr4:152778400-152778800	Active TSS	Right Ventricle	heart
9	chr4:152778400-152778800	Active TSS	Stomach Smooth Muscle	stomach
10	chr4:152778400-152778800	Flanking Active TSS	NHEK	skin
11	chr4:152778400-152779400	Weak transcription	HSMMtube	muscle
12	chr4:152778600-152778800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:152778600-152778800	Active TSS	Ovary	ovary
14	chr4:152778600-152779000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:152778600-152779200	Enhancers	Fetal Heart	heart
16	chr4:152778600-152779200	Enhancers	Right Atrium	heart
17	chr4:152778800-152779000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:152778800-152779000	Flanking Active TSS	Ovary	ovary
19	chr4:152778800-152779000	Enhancers	Pancreas	Pancrea
20	chr4:152778800-152779000	Active TSS	NHEK	skin
21	chr4:152778800-152779200	Enhancers	Liver	Liver
22	chr4:152778800-152779200	Enhancers	Right Ventricle	heart
23	chr4:152778800-152779400	Enhancers	Psoas Muscle	Psoas

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