Variant report

Variant	esv3335509
Chromosome Location	chr4:30539643-30539834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553132884	chr4:30539665-30539666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533925364	chr4:30539694-30539695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147796364	chr4:30539709-30539710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376092380	chr4:30539728-30539729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367842345	chr4:30539729-30539730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35645496	chr4:30539757-30539758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57495938	chr4:30539762-30539763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144276650	chr4:30539772-30539773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1849283	chr4:30539784-30539785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76994597	chr4:30539816-30539817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30536800-30540000	Enhancers	HUVEC	blood vessel
2	chr4:30539000-30539800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:30539000-30539800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:30539000-30539800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:30539000-30540600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:30539200-30540600	Weak transcription	HSMM	muscle
7	chr4:30539400-30539800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:30539400-30539800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:30539400-30539800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:30539800-30541400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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