Variant report

Variant	nsv594820
Chromosome Location	chr4:90579586-90600198
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	ARID3A	chr4:90596122-90596570	HepG2	liver:	n/a	n/a
2	BACH1	chr4:90582404-90582976	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr4:90581499-90583099	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr4:90581122-90581402	H1-hESC	embryonic stem cell:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
5	CEBPB	chr4:90581113-90581438	IMR90	lung:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
6	CEBPB	chr4:90581113-90581456	HepG2	liver:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
7	CEBPB	chr4:90581749-90583044	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr4:90582143-90582305	A549	lung:	n/a	n/a
9	CEBPB	chr4:90581119-90581470	Hela-S3	cervix:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
10	CEBPB	chr4:90591479-90591574	HepG2	liver:	n/a	chr4:90591522-90591533
11	CEBPB	chr4:90581150-90581412	A549	lung:	n/a	chr4:90581275-90581288 chr4:90581277-90581286 chr4:90581277-90581286 chr4:90581277-90581286
12	CHD2	chr4:90582628-90583000	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr4:90578989-90579598	A549	lung:	n/a	chr4:90579263-90579279 chr4:90579262-90579280 chr4:90579264-90579285
14	CTCF	chr4:90596238-90596260	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:90579620-90579770	HMF	breast:	n/a	n/a
16	CTCF	chr4:90579820-90579970	RPTEC	kidney:	n/a	n/a
17	E2F4	chr4:90582173-90582515	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr4:90596202-90596476	HepG2	liver:	n/a	n/a
19	EP300	chr4:90582687-90583053	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr4:90596156-90596625	HepG2	liver:	n/a	n/a
21	EP300	chr4:90581544-90583025	Hela-S3	cervix:	n/a	chr4:90582496-90582506
22	EP300	chr4:90582741-90582966	SK-N-SH_RA	brain:	n/a	n/a
23	FOS	chr4:90587206-90587264	MCF10A-Er-Src	breast:	n/a	chr4:90587216-90587226 chr4:90587216-90587226 chr4:90587216-90587226 chr4:90587217-90587225 chr4:90587216-90587226
24	FOS	chr4:90585694-90586059	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:90585706-90585991	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:90585695-90586043	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:90589346-90589638	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:90582064-90582374	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:90582724-90582994	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr4:90585658-90586063	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:90582084-90582360	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:90582688-90582987	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:90582182-90582339	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:90582623-90583040	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:90582635-90583036	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:90582058-90582238	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr4:90596117-90596319	T-47D	breast:	n/a	n/a
38	FOXA1	chr4:90595967-90596686	HepG2	liver:	n/a	n/a
39	FOXA1	chr4:90596076-90596624	HepG2	liver:	n/a	n/a
40	FOXA1	chr4:90596111-90596625	HepG2	liver:	n/a	n/a
41	FOXA1	chr4:90596021-90596560	HepG2	liver:	n/a	n/a
42	FOXA2	chr4:90596072-90596568	HepG2	liver:	n/a	n/a
43	FOXA2	chr4:90596021-90596645	HepG2	liver:	n/a	n/a
44	GATA3	chr4:90582588-90583132	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr4:90582550-90583155	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr4:90582659-90582807	SH-SY5Y	brain:	n/a	n/a
47	HDAC2	chr4:90596105-90596592	HepG2	liver:	n/a	n/a
48	HNF4A	chr4:90596172-90596527	HepG2	liver:	n/a	chr4:90596410-90596425
49	HNF4A	chr4:90596248-90596555	HepG2	liver:	n/a	chr4:90596410-90596425
50	HNF4G	chr4:90596259-90596547	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-2	chr4:90581365-90581506	ENSG00000251095.1

Variant related genes	Relation type
ENSG00000251095	TF binding region

Extended variants
information (count: 870 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7674641	chr4:90579586-90579587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541982620	chr4:90579637-90579638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563282909	chr4:90579824-90579825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118058041	chr4:90579835-90579836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146094767	chr4:90579852-90579853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563699546	chr4:90579856-90579857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567461719	chr4:90579995-90579996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140006828	chr4:90580013-90580014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547745706	chr4:90580036-90580037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566342619	chr4:90580040-90580041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530266446	chr4:90580072-90580073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79634127	chr4:90580112-90580113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570209214	chr4:90580131-90580132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537495195	chr4:90580183-90580184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143613233	chr4:90580200-90580201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146871679	chr4:90580224-90580225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570822872	chr4:90580259-90580260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570696883	chr4:90580278-90580279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537959133	chr4:90580279-90580280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553017508	chr4:90580356-90580357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574657796	chr4:90580357-90580358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556291318	chr4:90580371-90580372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113136506	chr4:90580398-90580399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541709315	chr4:90580438-90580439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556694440	chr4:90580468-90580469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112036682	chr4:90580505-90580506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377416064	chr4:90580551-90580552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577838028	chr4:90580570-90580571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575006860	chr4:90580576-90580577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545460638	chr4:90580650-90580651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187626603	chr4:90580744-90580745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115990836	chr4:90580748-90580749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539731084	chr4:90580773-90580774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540210541	chr4:90580777-90580778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538926775	chr4:90580811-90580812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559836562	chr4:90580842-90580843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530417577	chr4:90580861-90580862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548500589	chr4:90580890-90580891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556239685	chr4:90580920-90580921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372615672	chr4:90580934-90580935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543960298	chr4:90580989-90580990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192047890	chr4:90580992-90580993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556868982	chr4:90581001-90581002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112705564	chr4:90581003-90581004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28545331	chr4:90581017-90581018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115492977	chr4:90581106-90581107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116804561	chr4:90581157-90581158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546973168	chr4:90581180-90581181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572724881	chr4:90581184-90581185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535524342	chr4:90581203-90581204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90577800-90602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:90579000-90581600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:90579200-90579600	Enhancers	Dnd41	blood
4	chr4:90579200-90580000	Enhancers	NHEK	skin
5	chr4:90579600-90580000	Enhancers	HMEC	breast
6	chr4:90579600-90580200	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:90579600-90580200	Enhancers	GM12878-XiMat	blood
8	chr4:90579800-90580000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:90579800-90580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:90579800-90580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:90580000-90581400	Weak transcription	HMEC	breast
12	chr4:90580000-90581400	Weak transcription	NHEK	skin
13	chr4:90581000-90583400	Enhancers	Hela-S3	cervix
14	chr4:90581400-90582200	Enhancers	NHEK	skin
15	chr4:90581400-90587200	Enhancers	HMEC	breast
16	chr4:90581600-90583200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:90581600-90583200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:90581600-90583400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:90581600-90583800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:90581600-90587200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:90581800-90582200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:90581800-90583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:90581800-90583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:90581800-90585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:90581800-90587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:90582200-90582400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:90582200-90582600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:90582200-90582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:90582200-90583000	Enhancers	HUVEC	blood vessel
30	chr4:90582200-90583000	Flanking Active TSS	NHEK	skin
31	chr4:90582200-90583000	Enhancers	Osteobl	bone
32	chr4:90582200-90583200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:90582200-90583200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:90582200-90583200	Enhancers	NH-A	brain
35	chr4:90582400-90582800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:90582400-90582800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:90582400-90582800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:90582400-90582800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:90582400-90582800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:90582400-90582800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:90582400-90583000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:90582400-90583000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:90582400-90583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:90582400-90583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:90582400-90583000	Enhancers	HSMMtube	muscle
46	chr4:90582400-90583000	Enhancers	NHLF	lung
47	chr4:90582400-90583200	Enhancers	HSMM	muscle
48	chr4:90582600-90602600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:90582800-90583000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:90582800-90583000	Enhancers	Ovary	ovary

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