Variant report

Variant	esv3392028
Chromosome Location	chr4:132193396-132222801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:132209558-132210022	HCT-116	colon:	n/a	n/a
2	CCNT2	chr4:132205064-132205471	K562	blood:	n/a	n/a
3	CTCF	chr4:132218311-132218355	LNCaP	prostate:	n/a	n/a
4	E2F4	chr4:132198917-132199101	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr4:132201577-132201932	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr4:132202858-132203105	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr4:132200645-132200808	GM12878	blood:	n/a	n/a
8	KAP1	chr4:132209584-132210054	HEK293	kidney:	n/a	n/a
9	MAX	chr4:132211688-132211885	HepG2	liver:	n/a	n/a
10	MAX	chr4:132211683-132211885	Hela-S3	cervix:	n/a	n/a
11	NFYB	chr4:132211682-132211885	K562	blood:	n/a	n/a
12	PBX3	chr4:132211802-132211896	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:132200590-132200904	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:132221869-132221929	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:132202112-132202287	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:132212638-132212724	ProgFib	skin:	n/a	n/a
17	POLR2A	chr4:132196264-132196420	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:132209779-132209908	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:132211619-132212045	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:132214600-132214635	Gliobla	brain:	n/a	n/a
21	POLR2A	chr4:132209772-132209776	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:132211703-132211889	Gliobla	brain:	n/a	n/a
23	POLR2A	chr4:132215062-132215183	GM12878	blood:	n/a	n/a
24	REST	chr4:132211795-132211909	PANC-1	pancreas:	n/a	n/a
25	RFX5	chr4:132221602-132221955	K562	blood:	n/a	n/a
26	SETDB1	chr4:132206862-132207249	U2OS	brain:	n/a	n/a
27	SETDB1	chr4:132209533-132210118	U2OS	brain:	n/a	n/a
28	STAT3	chr4:132209355-132209376	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr4:132220342-132220344	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr4:132193671-132193694	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr4:132220389-132220456	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr4:132206664-132206955	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr4:132201643-132202368	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr4:132206324-132206327	MCF10A-Er-Src	breast:	n/a	n/a
35	UBTF	chr4:132217654-132217684	K562	blood:	n/a	n/a
36	ZNF143	chr4:132209591-132209908	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr4:132206836-132207201	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr4:132195411-132195551	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:
2	chr4:132208528..132210188-chr4:132213412..132215740,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-224P	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531118483	chr4:132193671-132193672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113668342	chr4:132208424-132208425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569384280	chr4:132208429-132208430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370866780	chr4:132208430-132208431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538523248	chr4:132208436-132208437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28813973	chr4:132208478-132208479	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74485068	chr4:132208488-132208489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569471692	chr4:132208547-132208548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553022137	chr4:132208615-132208616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572869839	chr4:132208674-132208675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544805769	chr4:132208711-132208712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558706323	chr4:132208762-132208763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575394906	chr4:132208804-132208805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544002394	chr4:132208805-132208806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560806961	chr4:132208845-132208846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529952142	chr4:132208859-132208860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148476568	chr4:132208904-132208905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191326904	chr4:132208933-132208934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548666147	chr4:132208959-132208960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532621549	chr4:132208961-132208962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552432693	chr4:132208962-132208963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569432680	chr4:132208988-132208989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs59870328	chr4:132209007-132209008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531765390	chr4:132209034-132209035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374029814	chr4:132209045-132209046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142292182	chr4:132209077-132209078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568738446	chr4:132209079-132209080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534522205	chr4:132209139-132209140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546599264	chr4:132209143-132209144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566380777	chr4:132209172-132209173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs578093134	chr4:132209183-132209184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540354993	chr4:132209199-132209200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28817612	chr4:132209263-132209264	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575304651	chr4:132209313-132209314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537612834	chr4:132209320-132209321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372389522	chr4:132209378-132209379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528951108	chr4:132209392-132209393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs150822524	chr4:132209415-132209416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs540169685	chr4:132209421-132209422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183513702	chr4:132209451-132209452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549000800	chr4:132209453-132209454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577216313	chr4:132209456-132209457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546183757	chr4:132209470-132209471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs562801890	chr4:132209495-132209496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188637833	chr4:132209517-132209518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139331488	chr4:132209571-132209572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562300039	chr4:132209591-132209592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527975547	chr4:132209623-132209624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536525843	chr4:132209642-132209643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571125707	chr4:132209651-132209652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132208400-132210400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:132211600-132211800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr4:132211600-132211800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	HSMM	muscle
5	chr4:132211600-132211800	Enhancers	HSMMtube	muscle
6	chr4:132211600-132211800	ZNF genes & repeats	HUVEC	blood vessel
7	chr4:132211600-132211800	ZNF genes & repeats	K562	blood
8	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NH-A	brain
9	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHEK	skin
10	chr4:132211600-132211800	Flanking Bivalent TSS/Enh	NHLF	lung
11	chr4:132211600-132211800	Enhancers	Osteobl	bone
12	chr4:132211600-132212000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:132211600-132212000	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr4:132211600-132212000	ZNF genes & repeats	GM12878-XiMat	blood
15	chr4:132211600-132212000	Active TSS	HMEC	breast
16	chr4:132211800-132212000	Active TSS	HSMM	muscle
17	chr4:132211800-132212000	Bivalent/Poised TSS	NHEK	skin
18	chr4:132214600-132214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:132215200-132215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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