Variant report

Variant	nsv521423
Chromosome Location	chr4:106442518-106448900
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	CEBPB	chr4:106442564-106442883	HepG2	liver:	n/a	chr4:106442728-106442739
2	CEBPB	chr4:106446315-106446515	HepG2	liver:	n/a	chr4:106446383-106446394
3	CEBPB	chr4:106442613-106442912	A549	lung:	n/a	chr4:106442728-106442739
4	CEBPB	chr4:106442557-106442882	IMR90	lung:	n/a	chr4:106442728-106442739
5	CEBPB	chr4:106442603-106442847	K562	blood:	n/a	chr4:106442728-106442739
6	CTCF	chr4:106448029-106448066	MCF-7	breast:	n/a	n/a
7	CTCF	chr4:106442580-106442730	NHEK	skin:	n/a	n/a
8	CTCF	chr4:106442480-106442630	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr4:106442480-106442630	AG04450	lung:	n/a	n/a
10	CTCF	chr4:106441716-106442576	SK-N-SH	brain:	n/a	chr4:106442170-106442191 chr4:106442171-106442184 chr4:106442168-106442186 chr4:106442169-106442185
11	CTCF	chr4:106448360-106448510	HepG2	liver:	n/a	n/a
12	CTCF	chr4:106448425-106448501	K562	blood:	n/a	n/a
13	CTCF	chr4:106441795-106442537	A549	lung:	n/a	chr4:106442170-106442191 chr4:106442171-106442184 chr4:106442168-106442186 chr4:106442169-106442185
14	ELK1	chr4:106442696-106442740	GM12878	blood:	n/a	n/a
15	FOS	chr4:106442721-106442787	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:106442588-106442922	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:106442611-106442811	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr4:106445098-106445343	HepG2	liver:	n/a	chr4:106445194-106445205
19	MAFK	chr4:106445153-106445261	HepG2	liver:	n/a	n/a
20	MAFK	chr4:106445153-106445257	HepG2	liver:	n/a	n/a
21	MAZ	chr4:106446773-106446942	HepG2	liver:	n/a	n/a
22	MYC	chr4:106442659-106442776	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr4:106448045-106448107	MCF-7	breast:	n/a	n/a
24	MYC	chr4:106442522-106442787	MCF10A-Er-Src	breast:	n/a	n/a
25	NRF1	chr4:106442270-106442593	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:106444869-106444994	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:106444529-106444544	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr4:106447886-106448009	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:106447974-106448013	MCF-7	breast:	n/a	n/a
30	POLR2A	chr4:106443279-106443374	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:106445501-106445589	MCF-7	breast:	n/a	n/a
32	POLR2A	chr4:106448019-106448074	MCF-7	breast:	n/a	n/a
33	RAD21	chr4:106448433-106448501	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr4:106441865-106442572	SK-N-SH	brain:	n/a	chr4:106442173-106442182 chr4:106442169-106442188
35	SMC3	chr4:106441922-106442531	SK-N-SH	brain:	n/a	chr4:106442170-106442184
36	STAT3	chr4:106442877-106443101	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:106443872-106444072	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr4:106446276-106446454	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:106441496..106442694-chr4:106586959..106588547,10	MCF-7	breast:
2	chr4:106441385..106442611-chr4:106587453..106588510,4	MCF-7	breast:
3	chr4:106441991..106443723-chr4:106514894..106517576,2	MCF-7	breast:
4	chr4:106442078..106442580-chr4:106636518..106637073,2	K562	blood:
5	chr4:106445140..106446660-chr4:106447275..106449907,2	MCF-7	breast:

Variant related genes	Relation type
ATP5EP1	TF binding region
ENSG00000216425	TF binding region
ENSG00000216425	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9307305	chr4:106442518-106442519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561328977	chr4:106442520-106442521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371859993	chr4:106442551-106442552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536798548	chr4:106442562-106442563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143587892	chr4:106442580-106442581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111564393	chr4:106442583-106442584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10026456	chr4:106442586-106442587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551579230	chr4:106442590-106442591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554301420	chr4:106445147-106445148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554294273	chr4:106445164-106445165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529794255	chr4:106445174-106445175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140081390	chr4:106445180-106445181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559983676	chr4:106445183-106445184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566080935	chr4:106445192-106445193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532460385	chr4:106445222-106445223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551866784	chr4:106445275-106445276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143772187	chr4:106445306-106445307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531297522	chr4:106445309-106445310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536617428	chr4:106445325-106445326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548352377	chr4:106445329-106445330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146840929	chr4:106445352-106445353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534354439	chr4:106445354-106445355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140570747	chr4:106445372-106445373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371413530	chr4:106445375-106445376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375662949	chr4:106445383-106445384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540159001	chr4:106445397-106445398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59404202	chr4:106445415-106445416	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145433646	chr4:106445453-106445454	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559886555	chr4:106445459-106445460	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111712420	chr4:106445464-106445465	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537727164	chr4:106445478-106445479	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13116022	chr4:106445479-106445480	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558931194	chr4:106445491-106445492	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115590069	chr4:106445535-106445536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577013037	chr4:106445547-106445548	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533860257	chr4:106445562-106445563	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559945491	chr4:106445565-106445566	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532290845	chr4:106445566-106445567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375566829	chr4:106445588-106445589	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201292172	chr4:106445589-106445590	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373720850	chr4:106445592-106445593	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143443685	chr4:106445594-106445595	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530782595	chr4:106445596-106445597	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs57372413	chr4:106445598-106445599	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10019202	chr4:106445600-106445601	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58515654	chr4:106445631-106445632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13116121	chr4:106445696-106445697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74778298	chr4:106445745-106445746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540736011	chr4:106445767-106445768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192640291	chr4:106445768-106445769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106442000-106442600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:106445400-106445600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:106447600-106448000	Enhancers	Pancreas	Pancrea
4	chr4:106448000-106448400	Weak transcription	Pancreas	Pancrea
5	chr4:106448400-106448600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:106448400-106448600	Enhancers	Pancreas	Pancrea
7	chr4:106448600-106466200	Weak transcription	Pancreas	Pancrea
8	chr4:106448800-106458000	Weak transcription	Gastric	stomach

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