Variant report

Variant	esv3438338
Chromosome Location	chr4:3576118-3576736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 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	BRCA1	chr4:3576365-3576373	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:3576042-3576167	HepG2	liver:	n/a	chr4:3576093-3576104
4	HMGN3	chr4:3576262-3576459	K562	blood:	n/a	n/a
5	MYC	chr4:3576245-3576278	K562	blood:	n/a	n/a
6	NR3C1	chr4:3575908-3576122	A549	lung:	n/a	n/a
7	POLR2A	chr4:3576224-3576326	K562	blood:	n/a	n/a
8	POLR2A	chr4:3576340-3576362	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3576336-3576386	ovcar-3	ovarian:	n/a
2	chr4:3576273-3576323	Hepatocyte	liver:	n/a
3	chr4:3576336-3576386	Jurkat	blood:	n/a
4	chr4:3576489-3576539	HRPEpiC	eye:	n/a
5	chr4:3576489-3576539	NHBE	bronchial:	n/a
6	chr4:3576273-3576323	HIPEpiC	eye:	n/a
7	chr4:3576489-3576539	ECC-1	luminal epithelium:	n/a
8	chr4:3576336-3576386	K562	blood:	n/a
9	chr4:3576336-3576386	PrEC	prostate:	n/a
10	chr4:3576273-3576323	HRPEpiC	eye:	n/a
11	chr4:3576273-3576323	PANC-1	pancreas:	n/a
12	chr4:3576273-3576323	HepG2	liver:	n/a
13	chr4:3576336-3576386	MCF10A-Er-Src	breast:	n/a
14	chr4:3576489-3576539	HepG2	liver:	n/a
15	chr4:3576489-3576539	HIPEpiC	eye:	n/a
16	chr4:3576489-3576539	GM19239	blood:	n/a
17	chr4:3576273-3576323	K562	blood:	n/a
18	chr4:3576273-3576323	IMR90	lung:	fetal
19	chr4:3576273-3576323	LNCaP	prostate:	n/a
20	chr4:3576273-3576323	HAEpiC	amniotic membrane:	n/a
21	chr4:3576489-3576539	MCF-7	breast:	n/a
22	chr4:3576489-3576539	NT2-D1	testis:	n/a
23	chr4:3576336-3576386	GM19239	blood:	n/a
24	chr4:3576336-3576386	HAEpiC	amniotic membrane:	n/a
25	chr4:3576336-3576386	GM12878	blood:	n/a
26	chr4:3576489-3576539	ovcar-3	ovarian:	n/a
27	chr4:3576489-3576539	PFSK-1	brain:	n/a
28	chr4:3576336-3576386	HEK293	kidney:	embryo
29	chr4:3576273-3576323	MCF10A-Er-Src	breast:	n/a
30	chr4:3576336-3576386	CMK	blood:	n/a
31	chr4:3576336-3576386	A549	lung:	n/a
32	chr4:3576336-3576386	NT2-D1	testis:	n/a
33	chr4:3576273-3576323	GM19239	blood:	n/a
34	chr4:3576489-3576539	RPTEC	kidney:	n/a
35	chr4:3576336-3576386	HL-60	blood:	n/a
36	chr4:3576336-3576386	BJ	skin:	n/a
37	chr4:3576489-3576539	U87	brain:	n/a
38	chr4:3576489-3576539	GM12892	blood:	n/a
39	chr4:3576273-3576323	Jurkat	blood:	n/a
40	chr4:3576489-3576539	HEEpiC	esophagus:	n/a
41	chr4:3576273-3576323	AoSMC	blood vessel:	n/a
42	chr4:3576336-3576386	HMEC	breast:	n/a
43	chr4:3576273-3576323	MCF-7	breast:	n/a
44	chr4:3576336-3576386	HCT-116	colon:	n/a
45	chr4:3576489-3576539	Jurkat	blood:	n/a
46	chr4:3576489-3576539	HRCEpiC	kidney:	n/a
47	chr4:3576273-3576323	NHBE	bronchial:	n/a
48	chr4:3576489-3576539	AG09319	gingival:	n/a
49	chr4:3576273-3576323	AG04449	skin:	fetal
50	chr4:3576336-3576386	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3574894..3577613-chr4:3578076..3580368,2	K562	blood:
2	chr4:3532775..3535041-chr4:3574379..3576145,2	K562	blood:

No data

Variant related genes	Relation type
LINC00955	TF binding region
LINC00955	CpG island
ENSG00000216560	chromatin interactions
ENSG00000163956	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78839176	chr4:3576119-3576120	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78883563	chr4:3576121-3576122	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77065777	chr4:3576130-3576131	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs77997299	chr4:3576133-3576134	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73199327	chr4:3576158-3576159	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73792231	chr4:3576173-3576174	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567781493	chr4:3576193-3576194	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1188603	chr4:3576197-3576198	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372590302	chr4:3576202-3576203	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74848916	chr4:3576220-3576221	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562873183	chr4:3576228-3576229	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs68181143	chr4:3576263-3576264	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576663273	chr4:3576284-3576285	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10030504	chr4:3576287-3576288	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73199330	chr4:3576295-3576296	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561894575	chr4:3576300-3576301	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73199331	chr4:3576303-3576304	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527790159	chr4:3576329-3576330	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73199332	chr4:3576330-3576331	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4690047	chr4:3576348-3576349	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115316185	chr4:3576351-3576352	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150268617	chr4:3576359-3576360	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138979598	chr4:3576371-3576372	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369038597	chr4:3576372-3576373	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs4690046	chr4:3576381-3576382	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	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
27	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
28	rs141481133	chr4:3576448-3576449	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537738629	chr4:3576456-3576457	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200935026	chr4:3576467-3576468	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577818969	chr4:3576483-3576484	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	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
33	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
34	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
35	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
36	rs368012010	chr4:3576524-3576525	Enhancers ZNF genes & repeats Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576510778	chr4:3576555-3576556	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539693632	chr4:3576561-3576562	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142764427	chr4:3576573-3576574	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78493434	chr4:3576580-3576581	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73792233	chr4:3576593-3576594	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556472049	chr4:3576632-3576633	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576594009	chr4:3576660-3576661	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs62275422	chr4:3576690-3576691	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576684868	chr4:3576707-3576708	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs199531045	chr4:3576715-3576716	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62275424	chr4:3576720-3576721	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112218788	chr4:3576731-3576732	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs66761019	chr4:3576736-3576737	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:9 , 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	chr4:3575200-3576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:3576000-3579600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3576400-3576600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:3576400-3576600	Enhancers	Gastric	stomach
8	chr4:3576600-3577600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:3576600-3580200	Weak transcription	Gastric	stomach

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