Variant report

Variant	esv3353295
Chromosome Location	chr4:127994396-128017617
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	chr4:128007689-128008011	K562	blood:	n/a	n/a
2	CEBPB	chr4:128000425-128000755	HepG2	liver:	n/a	chr4:128000568-128000577 chr4:128000568-128000577 chr4:128000487-128000500 chr4:128000566-128000577 chr4:128000568-128000579 chr4:128000568-128000577 chr4:128000568-128000577
3	CEBPB	chr4:128000426-128000753	IMR90	lung:	n/a	chr4:128000568-128000577 chr4:128000568-128000577 chr4:128000487-128000500 chr4:128000566-128000577 chr4:128000568-128000579 chr4:128000568-128000577 chr4:128000568-128000577
4	CEBPB	chr4:128000397-128000737	K562	blood:	n/a	chr4:128000568-128000577 chr4:128000568-128000577 chr4:128000487-128000500 chr4:128000566-128000577 chr4:128000568-128000579 chr4:128000568-128000577 chr4:128000568-128000577
5	CEBPB	chr4:128000438-128000707	ECC-1	luminal epithelium:	n/a	chr4:128000568-128000577 chr4:128000568-128000577 chr4:128000487-128000500 chr4:128000566-128000577 chr4:128000568-128000579 chr4:128000568-128000577 chr4:128000568-128000577
6	CEBPB	chr4:128000473-128000732	A549	lung:	n/a	chr4:128000568-128000577 chr4:128000568-128000577 chr4:128000487-128000500 chr4:128000566-128000577 chr4:128000568-128000579 chr4:128000568-128000577 chr4:128000568-128000577
7	CEBPB	chr4:127994767-127994988	HepG2	liver:	n/a	chr4:127994862-127994871 chr4:127994862-127994873 chr4:127994860-127994873
8	CEBPB	chr4:128015624-128015727	A549	lung:	n/a	n/a
9	E2F4	chr4:128002351-128002446	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr4:128016773-128016880	GM12878	blood:	n/a	n/a
11	FOS	chr4:128005965-128005999	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr4:128005994-128006005	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr4:128005914-128006063	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA2	chr4:127998090-127998418	A549	lung:	n/a	n/a
15	KAP1	chr4:128007661-128008106	HEK293	kidney:	n/a	n/a
16	MAFF	chr4:127995556-127995681	K562	blood:	n/a	n/a
17	MAFK	chr4:127995449-127995765	HepG2	liver:	n/a	chr4:127995612-127995623
18	MAFK	chr4:127995582-127995709	K562	blood:	n/a	chr4:127995612-127995623
19	MAFK	chr4:127995452-127995764	IMR90	lung:	n/a	chr4:127995612-127995623
20	MAZ	chr4:128002856-128002886	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:127995934-127996002	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:127995349-127995751	SK-N-MC	brain:	n/a	n/a
23	RCOR1	chr4:127994162-127994463	K562	blood:	n/a	n/a
24	REST	chr4:128000625-128000940	ECC-1	luminal epithelium:	n/a	chr4:128000746-128000755
25	REST	chr4:128000509-128000892	PFSK-1	brain:	n/a	chr4:128000746-128000755
26	RFX5	chr4:127995772-127995798	K562	blood:	n/a	n/a
27	SETDB1	chr4:128007655-128008139	U2OS	brain:	n/a	n/a
28	SMC3	chr4:128000520-128000643	HepG2	liver:	n/a	n/a
29	STAT3	chr4:128009246-128009407	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr4:128001654-128001830	MCF10A-Er-Src	breast:	n/a	n/a
31	ZNF143	chr4:128007720-128007931	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFSD8-4	chr4:128016259-128016504	XLOC_004067
2	lnc-MFSD8-4	chr4:128015586-128015631	XLOC_004067
3	lnc-MFSD8-4	chr4:128016259-128016421	XLOC_004067
4	lnc-MFSD8-5	chr4:127998890-127998917	XLOC_004066
5	lnc-MFSD8-4	chr4:128017487-128017878	XLOC_004067
6	lnc-MFSD8-4	chr4:128015620-128015631	XLOC_004067
7	lnc-MFSD8-5	chr4:127994931-127995045	XLOC_004066

Variant related genes	Relation type
ENSG00000250945	TF binding region
PIK3CA	miRNA target sites
ITGA5	miRNA target sites

Extended variants
information (count: 385 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13122080	chr4:127994423-127994424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150195596	chr4:127994559-127994560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180727380	chr4:127994560-127994561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571094462	chr4:127994564-127994565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372586574	chr4:127994565-127994566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531358044	chr4:128000417-128000418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs17291337	chr4:128000462-128000463	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs17012074	chr4:128000472-128000473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138015431	chr4:128000538-128000539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs72925316	chr4:128000558-128000559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551284660	chr4:128000596-128000597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569421452	chr4:128000611-128000612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs188890881	chr4:128000655-128000656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532534427	chr4:128000705-128000706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575628692	chr4:128000723-128000724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113602990	chr4:128000772-128000773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192280545	chr4:128000786-128000787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555160922	chr4:128000862-128000863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371279352	chr4:128001204-128001205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59922433	chr4:128001245-128001246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373316187	chr4:128001287-128001288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542414097	chr4:128001301-128001302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115687059	chr4:128001334-128001335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563533410	chr4:128001339-128001340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539972192	chr4:128001350-128001351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75574075	chr4:128001357-128001358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145625072	chr4:128001369-128001370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550271963	chr4:128001374-128001375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147725464	chr4:128001388-128001389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6821701	chr4:128001392-128001393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1552089	chr4:128001445-128001446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs35943375	chr4:128001495-128001496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111504627	chr4:128001498-128001499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184615206	chr4:128001510-128001511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567111469	chr4:128001573-128001574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72925318	chr4:128001584-128001585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139859838	chr4:128001588-128001589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570833210	chr4:128001629-128001630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113993632	chr4:128001630-128001631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538256325	chr4:128001646-128001647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556235579	chr4:128001680-128001681	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs528542631	chr4:128001690-128001691	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72925319	chr4:128001702-128001703	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576469513	chr4:128001721-128001722	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs548394967	chr4:128001751-128001752	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371910218	chr4:128001789-128001790	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs17212899	chr4:128001835-128001836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572727709	chr4:128001924-128001925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540024822	chr4:128001936-128001937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565007459	chr4:128001968-128001969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127994200-127994600	Enhancers	K562	blood
2	chr4:128001200-128001800	Enhancers	Fetal Lung	lung
3	chr4:128001400-128002600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:128001800-128004200	Weak transcription	Fetal Lung	lung
5	chr4:128002600-128003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:128003400-128004600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:128004200-128004800	Enhancers	Fetal Lung	lung
8	chr4:128004800-128007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:128007400-128007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:128007600-128008000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:128007600-128008200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr4:128009000-128009200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:128009200-128011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:128009800-128010200	Enhancers	Lung	lung

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