Variant report

Variant	esv3428358
Chromosome Location	chr4:1144662-1144791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:1144667-1144959	K562	blood:	n/a	n/a
2	CBX3	chr4:1144722-1144917	K562	blood:	n/a	n/a
3	KAP1	chr4:1144471-1144795	HEK293	kidney:	n/a	n/a
4	SETDB1	chr4:1144644-1144993	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1142209..1145011-chr4:1146072..1149745,6	K562	blood:
2	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
3	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:

Variant related genes	Relation type
ENSG00000227189	TF binding region
ENSG00000159692	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000215367	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192301956	chr4:1144680-1144681	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571355611	chr4:1144688-1144689	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs140522840	chr4:1144701-1144702	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs4974633	chr4:1144702-1144703	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs183301632	chr4:1144729-1144730	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs78413838	chr4:1144744-1144745	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs539179173	chr4:1144759-1144760	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1124800-1149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:1143600-1145200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:1143600-1145400	Enhancers	Pancreas	Pancrea
4	chr4:1143800-1146200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:1144000-1145400	ZNF genes & repeats	Fetal Stomach	stomach

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