Variant report

Variant	nsv243776
Chromosome Location	chr4:120015133-120015134
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	chr4:120014220..120018464-chr4:120020403..120024000,3	MCF-7	breast:
2	chr4:120001166..120004043-chr4:120014693..120016511,3	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147073179	chr4:120015133-120015134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs35018022	chr4:120015134-120015135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120009000-120017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:120009200-120019000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120013000-120015400	Enhancers	Stomach Mucosa	stomach
4	chr4:120013200-120015200	Enhancers	HepG2	liver
5	chr4:120014200-120016000	Enhancers	HUVEC	blood vessel
6	chr4:120014400-120015200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:120014400-120015200	Flanking Active TSS	A549	lung
8	chr4:120014400-120015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:120014600-120015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:120014600-120015600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:120014600-120015600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:120014600-120015800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:120014800-120019000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:120014800-120022800	Weak transcription	NHEK	skin
15	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:120015000-120016600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:120015000-120016600	Weak transcription	Left Ventricle	heart
18	chr4:120015000-120019000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:120015000-120019600	Weak transcription	Osteobl	bone
20	chr4:120015000-120020000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:120015000-120020200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:120015000-120020200	Weak transcription	HSMM	muscle
23	chr4:120015000-120020200	Weak transcription	NH-A	brain
24	chr4:120015000-120021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:120015000-120027800	Weak transcription	Right Atrium	heart

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