Variant report

Variant	esv3375168
Chromosome Location	chr4:822995-823104
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	CTCF	chr4:822744-823007	IMR90	lung:	n/a	n/a
2	CTCF	chr4:822900-823050	WI-38	lung:	n/a	n/a
3	CTCF	chr4:822556-823174	A549	lung:	n/a	chr4:822717-822725
4	CTCF	chr4:822880-823030	GM06990	blood:	n/a	n/a
5	CTCF	chr4:822698-823072	H1-hESC	embryonic stem cell:	n/a	chr4:822717-822725
6	CTCF	chr4:822669-823076	K562	blood:	n/a	chr4:822717-822725
7	CTCF	chr4:822739-823017	K562	blood:	n/a	n/a
8	GABPA	chr4:822732-823022	K562	blood:	n/a	n/a
9	GABPA	chr4:822683-823008	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr4:822517-823030	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr4:822710-822997	IMR90	lung:	n/a	chr4:822716-822725
12	RAD21	chr4:822694-823023	H1-hESC	embryonic stem cell:	n/a	chr4:822716-822725
13	RAD21	chr4:822697-823106	H1-hESC	embryonic stem cell:	n/a	chr4:822716-822725
14	RAD21	chr4:822679-823035	Hela-S3	cervix:	n/a	chr4:822716-822725
15	RAD21	chr4:822702-823005	HepG2	liver:	n/a	chr4:822716-822725
16	RFX5	chr4:822568-823002	Hela-S3	cervix:	n/a	n/a
17	SMC3	chr4:822688-823030	Hela-S3	cervix:	n/a	n/a
18	ZNF143	chr4:822727-823017	H1-hESC	embryonic stem cell:	n/a	chr4:822803-822821
19	ZNF263	chr4:822550-823034	HEK293-T-REx	kidney:	n/a	chr4:822815-822824 chr4:822810-822831

No.	Distal block	Cell Line	Cell type
1	chr4:767045..769488-chr4:820601..823147,2	K562	blood:
2	chr4:822237..824857-chr4:826820..829457,3	MCF-7	breast:
3	chr4:675798..677554-chr4:822582..825253,2	K562	blood:
4	chr4:770559..774303-chr4:822047..825549,3	MCF-7	breast:
5	chr4:775742..777793-chr4:821294..823838,2	MCF-7	breast:
6	chr4:821558..823207-chr4:827876..830795,2	MCF-7	breast:

Variant related genes	Relation type
CPLX1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111921381	chr4:823009-823010	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs58671422	chr4:823012-823013	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377148594	chr4:823013-823014	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374307589	chr4:823090-823091	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368548096	chr4:823092-823093	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs59710573	chr4:823093-823094	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:821000-825600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr4:821000-828800	Weak transcription	Right Atrium	heart
3	chr4:822200-823400	Enhancers	Pancreas	Pancrea
4	chr4:822400-823000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:822400-823400	Enhancers	Spleen	Spleen
6	chr4:822600-823200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:822600-823800	Enhancers	Right Ventricle	heart
8	chr4:822800-823000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:822800-823200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:822800-823200	Enhancers	Hela-S3	cervix
11	chr4:822800-824000	Weak transcription	Left Ventricle	heart
12	chr4:822800-824800	Bivalent Enhancer	Placenta	Placenta
13	chr4:823000-823200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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