Variant report

Variant	nsv247917
Chromosome Location	chr4:99493118-99493125
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	chr4:99485403..99488335-chr4:99490236..99493906,4	MCF-7	breast:

Extended variants
information (count: 0)
Associated
traits (count: 82 )

No data

Variant related diseases (count:82)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99466800-99501600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:99479000-99506400	Weak transcription	Aorta	Aorta
3	chr4:99483200-99495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:99483400-99498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:99484200-99495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:99485000-99501400	Weak transcription	HUVEC	blood vessel
7	chr4:99485400-99495000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:99487200-99500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:99487400-99495000	Weak transcription	Primary T cells from cord blood	blood
10	chr4:99487800-99498600	Weak transcription	NHLF	lung
11	chr4:99488000-99495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:99488000-99495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:99488000-99495400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:99488000-99499000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:99488000-99499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:99488200-99493800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:99488200-99494200	Enhancers	Brain Angular Gyrus	brain
18	chr4:99488200-99495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:99488200-99495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:99488200-99495400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:99488200-99495800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:99488200-99500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:99488400-99493600	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:99488400-99493600	Weak transcription	Fetal Lung	lung
25	chr4:99488400-99495400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:99488600-99493400	Weak transcription	Fetal Stomach	stomach
27	chr4:99489000-99498800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99489600-99493600	Enhancers	Brain Substantia Nigra	brain
29	chr4:99490200-99495000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:99490200-99499000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:99490400-99493600	Weak transcription	Fetal Kidney	kidney
32	chr4:99490400-99499200	Weak transcription	Brain Germinal Matrix	brain
33	chr4:99490600-99495400	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:99490600-99498600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:99490600-99498800	Weak transcription	Stomach Mucosa	stomach
36	chr4:99490600-99501400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:99490800-99493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:99490800-99495400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:99490800-99499600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:99490800-99499800	Weak transcription	Right Atrium	heart
41	chr4:99490800-99506600	Weak transcription	Esophagus	oesophagus
42	chr4:99490800-99509000	Weak transcription	HSMM	muscle
43	chr4:99491000-99495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:99491000-99495000	Weak transcription	NH-A	brain
45	chr4:99491000-99495200	Weak transcription	Fetal Heart	heart
46	chr4:99491000-99503400	Weak transcription	Thymus	Thymus
47	chr4:99491600-99495600	Weak transcription	Ovary	ovary
48	chr4:99492000-99493200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:99492000-99495800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:99492000-99496200	Weak transcription	NHDF-Ad	bronchial

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