Variant report

Variant	esv992171
Chromosome Location	chr4:126352195-126352211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370712059	chr4:126352201-126352202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150987245	chr4:126352204-126352205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368826519	chr4:126352206-126352207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542703861	chr4:126352207-126352208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373305350	chr4:126352208-126352209	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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126312000-126354400	Weak transcription	HSMM	muscle
2	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:126335200-126353200	Weak transcription	Psoas Muscle	Psoas
6	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:126337000-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:126337800-126356000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:126337800-126356600	Weak transcription	Liver	Liver
10	chr4:126338400-126353200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:126338600-126371000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:126338800-126371400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:126339000-126355400	Weak transcription	Left Ventricle	heart
14	chr4:126342000-126353200	Weak transcription	Fetal Heart	heart
15	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
16	chr4:126342600-126371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:126343000-126354200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:126343200-126354400	Weak transcription	HUVEC	blood vessel
19	chr4:126345000-126353200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:126345000-126353200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:126345000-126354200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:126345000-126355400	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:126345000-126355800	Weak transcription	Aorta	Aorta
24	chr4:126345000-126369600	Weak transcription	Ovary	ovary
25	chr4:126345000-126371400	Weak transcription	Fetal Stomach	stomach
26	chr4:126345000-126371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:126345000-126373200	Weak transcription	Lung	lung
28	chr4:126345600-126355400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:126345600-126369400	Weak transcription	Fetal Kidney	kidney
30	chr4:126345600-126369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:126345600-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:126345800-126352200	Weak transcription	Fetal Lung	lung
33	chr4:126345800-126355400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:126347200-126353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:126347800-126382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:126350400-126353000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:126350600-126354600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:126351000-126352200	Enhancers	Fetal Brain Male	brain
39	chr4:126351400-126353200	Weak transcription	Osteobl	bone
40	chr4:126351600-126353000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:126351600-126356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:126351600-126369400	Weak transcription	Fetal Brain Female	brain
43	chr4:126352200-126355800	Enhancers	Fetal Lung	lung

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