Variant report

Variant	esv2505241
Chromosome Location	chr4:7220720-7220730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7195064..7196941-chr4:7218562..7221333,2	MCF-7	breast:
2	chr4:7206601..7211968-chr4:7218042..7220956,6	MCF-7	breast:
3	chr4:7213265..7217793-chr4:7218088..7221480,5	MCF-7	breast:
4	chr4:7218044..7221709-chr4:7224242..7227434,3	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67843577	chr4:7220720-7220721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs58380707	chr4:7220723-7220724	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373832067	chr4:7220730-7220731	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7210400-7222400	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7212800-7225400	Weak transcription	Ovary	ovary
3	chr4:7216600-7228600	Weak transcription	Right Atrium	heart
4	chr4:7216800-7227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7218000-7221000	Enhancers	Liver	Liver
6	chr4:7218600-7220800	Enhancers	Lung	lung
7	chr4:7218600-7228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:7218800-7221800	Enhancers	HSMM	muscle
9	chr4:7219200-7220800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:7219200-7220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:7219600-7220800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:7219600-7220800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:7220000-7220800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:7220000-7220800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:7220000-7221000	Enhancers	Hela-S3	cervix
16	chr4:7220000-7224200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:7220200-7221000	Enhancers	A549	lung
18	chr4:7220400-7220800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7220400-7220800	Flanking Active TSS	HSMMtube	muscle
20	chr4:7220600-7220800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:7220600-7221800	Weak transcription	Pancreas	Pancrea
22	chr4:7220600-7224200	Weak transcription	NH-A	brain

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