Variant report

Variant	esv2140260
Chromosome Location	chr4:3836883-3836885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3836235..3839004-chr4:3842229..3844534,2	K562	blood:
2	chr4:3834416..3837060-chr4:3839429..3841661,2	K562	blood:
3	chr4:3836738..3837592-chr4:3853879..3854431,2	MCF-7	breast:
4	chr4:3831503..3833114-chr4:3834560..3837370,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34661459	chr4:3836884-3836885	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3830000-3839400	Weak transcription	Right Atrium	heart
2	chr4:3832800-3837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:3832800-3837400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:3833400-3837800	Enhancers	HepG2	liver
5	chr4:3834400-3837400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3835200-3838800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:3835600-3838000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:3835600-3838200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:3835600-3838800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:3835800-3838800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:3836000-3837200	Enhancers	Spleen	Spleen
12	chr4:3836000-3838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:3836000-3838400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr4:3836200-3837200	Enhancers	Brain Germinal Matrix	brain
15	chr4:3836200-3837800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr4:3836200-3838400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:3836400-3837400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr4:3836400-3837600	Weak transcription	Pancreas	Pancrea
19	chr4:3836600-3837000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:3836600-3837200	Weak transcription	Gastric	stomach
21	chr4:3836600-3837600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:3836600-3837600	Weak transcription	Brain Anterior Caudate	brain
23	chr4:3836800-3837200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:3836800-3837400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr4:3836800-3837600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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