Variant report

Variant	esv3514337
Chromosome Location	chr4:3576407-3576623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:3576432-3576518	K562	blood:	n/a	n/a
2	HMGN3	chr4:3576262-3576459	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3576489-3576539	HCF	heart:	n/a
2	chr4:3576489-3576539	CMK	blood:	n/a
3	chr4:3576489-3576539	GM12892	blood:	n/a
4	chr4:3576489-3576539	T-47D	breast:	n/a
5	chr4:3576489-3576539	AG04449	skin:	fetal
6	chr4:3576489-3576539	GM19239	blood:	n/a
7	chr4:3576489-3576539	GM06990	blood:	n/a
8	chr4:3576489-3576539	SAEC	small airway:	n/a
9	chr4:3576489-3576539	HCM	heart:	n/a
10	chr4:3576489-3576539	ovcar-3	ovarian:	n/a
11	chr4:3576489-3576539	NB4	blood:	n/a
12	chr4:3576489-3576539	ProgFib	skin:	n/a
13	chr4:3576489-3576539	PrEC	prostate:	n/a
14	chr4:3576489-3576539	AG04450	lung:	fetal
15	chr4:3576489-3576539	H1-hESC	embryonic stem cell:	embryo
16	chr4:3576489-3576539	HIPEpiC	eye:	n/a
17	chr4:3576489-3576539	SKMC	muscle:	n/a
18	chr4:3576489-3576539	ECC-1	luminal epithelium:	n/a
19	chr4:3576489-3576539	Caco-2	colon:	n/a
20	chr4:3576489-3576539	AG10803	skin:	n/a
21	chr4:3576489-3576539	PFSK-1	brain:	n/a
22	chr4:3576489-3576539	Jurkat	blood:	n/a
23	chr4:3576489-3576539	AoSMC	blood vessel:	n/a
24	chr4:3576489-3576539	K562	blood:	n/a
25	chr4:3576489-3576539	HNPCEpiC	eye:	n/a
26	chr4:3576489-3576539	HAEpiC	amniotic membrane:	n/a
27	chr4:3576489-3576539	AG09309	skin:	n/a
28	chr4:3576489-3576539	GM12878	blood:	n/a
29	chr4:3576489-3576539	NHDF-neo	bronchial:	n/a
30	chr4:3576489-3576539	HCT-116	colon:	n/a
31	chr4:3576489-3576539	HMEC	breast:	n/a
32	chr4:3576489-3576539	NT2-D1	testis:	n/a
33	chr4:3576489-3576539	HUVEC	blood vessel:	n/a
34	chr4:3576489-3576539	PANC-1	pancreas:	n/a
35	chr4:3576489-3576539	BE2_C	brain:	n/a
36	chr4:3576489-3576539	Hepatocyte	liver:	n/a
37	chr4:3576489-3576539	SK-N-SH_RA	brain:	n/a
38	chr4:3576489-3576539	RPTEC	kidney:	n/a
39	chr4:3576489-3576539	HepG2	liver:	n/a
40	chr4:3576489-3576539	HRCEpiC	kidney:	n/a
41	chr4:3576489-3576539	U87	brain:	n/a
42	chr4:3576489-3576539	LNCaP	prostate:	n/a
43	chr4:3576489-3576539	SK-N-MC	brain:	n/a
44	chr4:3576489-3576539	Hela-S3	cervix:	n/a
45	chr4:3576489-3576539	HEEpiC	esophagus:	n/a
46	chr4:3576489-3576539	HL-60	blood:	n/a
47	chr4:3576489-3576539	MCF10A-Er-Src	breast:	n/a
48	chr4:3576489-3576539	BJ	skin:	n/a
49	chr4:3576489-3576539	HRE	kidney:	n/a
50	chr4:3576489-3576539	IMR90	lung:	fetal

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3574894..3577613-chr4:3578076..3580368,2	K562	blood:

No data

Variant related genes	Relation type
LINC00955	TF binding region
LINC00955	CpG island
ENSG00000216560	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71608293	chr4:3576439-3576440	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7699191	chr4:3576446-3576447	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs141481133	chr4:3576448-3576449	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537738629	chr4:3576456-3576457	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200935026	chr4:3576467-3576468	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577818969	chr4:3576483-3576484	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536146167	chr4:3576489-3576490	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370276264	chr4:3576496-3576497	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs567915094	chr4:3576506-3576507	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146185346	chr4:3576507-3576508	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368012010	chr4:3576524-3576525	Enhancers ZNF genes & repeats Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576510778	chr4:3576555-3576556	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539693632	chr4:3576561-3576562	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142764427	chr4:3576573-3576574	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78493434	chr4:3576580-3576581	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73792233	chr4:3576593-3576594	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3573000-3580200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:3573800-3578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:3576000-3579600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3576400-3576600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:3576400-3576600	Enhancers	Gastric	stomach
7	chr4:3576600-3577600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:3576600-3580200	Weak transcription	Gastric	stomach

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