Variant report

Variant	esv3391030
Chromosome Location	chr4:124939277-124939600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 73 )

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	rs557863662	chr4:124939291-124939292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188528321	chr4:124939321-124939322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77518806	chr4:124939334-124939335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77241777	chr4:124939335-124939336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193072293	chr4:124939362-124939363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572587751	chr4:124939372-124939373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6838466	chr4:124939377-124939378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189725023	chr4:124939380-124939381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6838469	chr4:124939382-124939383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13152684	chr4:124939389-124939390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13152686	chr4:124939397-124939398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6815826	chr4:124939402-124939403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6838497	chr4:124939427-124939428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528123816	chr4:124939429-124939430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188153723	chr4:124939430-124939431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6838500	chr4:124939432-124939433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182011195	chr4:124939434-124939435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562414934	chr4:124939443-124939444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531234886	chr4:124939463-124939464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551156634	chr4:124939473-124939474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571042564	chr4:124939487-124939488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190693122	chr4:124939502-124939503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111064439	chr4:124939597-124939598	Weak transcription Enhancers	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
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
T-cell prolymphocytic leukemia	19278963	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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124935400-124941400	Weak transcription	Aorta	Aorta
2	chr4:124935600-124939800	Weak transcription	Esophagus	oesophagus
3	chr4:124937000-124940000	Enhancers	Stomach Mucosa	stomach
4	chr4:124938400-124939800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:124938400-124940200	Enhancers	NHDF-Ad	bronchial
6	chr4:124938600-124939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:124938600-124939800	Weak transcription	Hela-S3	cervix
8	chr4:124938800-124939600	Weak transcription	HSMMtube	muscle
9	chr4:124938800-124939800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:124938800-124939800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:124938800-124939800	Weak transcription	Fetal Intestine Large	intestine
12	chr4:124938800-124939800	Weak transcription	Fetal Lung	lung
13	chr4:124938800-124939800	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:124938800-124939800	Weak transcription	Psoas Muscle	Psoas
15	chr4:124938800-124939800	Weak transcription	NHLF	lung
16	chr4:124939000-124939400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:124939000-124939400	Weak transcription	Fetal Heart	heart
18	chr4:124939400-124940200	Enhancers	Fetal Heart	heart
19	chr4:124939400-124941600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:124939600-124939800	Enhancers	Primary B cells from cord blood	blood
21	chr4:124939600-124939800	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:124939600-124939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:124939600-124939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:124939600-124939800	Active TSS	Adipose Nuclei	Adipose
25	chr4:124939600-124939800	Enhancers	GM12878-XiMat	blood
26	chr4:124939600-124939800	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:124939600-124940400	Enhancers	HepG2	liver
28	chr4:124939600-124941400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:124939600-124941400	Enhancers	HSMMtube	muscle

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