Variant report

Variant	nsv818622
Chromosome Location	chr1:184144995-184158796
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	chr1:184155320-184155635	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:184155407-184155724	HepG2	liver:	n/a	n/a
3	CTCF	chr1:184156810-184156825	ProgFib	skin:	n/a	n/a
4	CTCF	chr1:184150351-184150580	GM12878	blood:	n/a	n/a
5	CTCF	chr1:184156837-184156868	ProgFib	skin:	n/a	n/a
6	ELF1	chr1:184156715-184156991	K562	blood:	n/a	chr1:184156875-184156888
7	FOXA1	chr1:184155295-184155768	HepG2	liver:	n/a	chr1:184155502-184155517
8	FOXA1	chr1:184155399-184155658	HepG2	liver:	n/a	chr1:184155502-184155517
9	FOXA1	chr1:184155323-184155731	HepG2	liver:	n/a	chr1:184155502-184155517
10	FOXA1	chr1:184155328-184155721	HepG2	liver:	n/a	chr1:184155502-184155517
11	FOXA2	chr1:184155117-184155979	HepG2	liver:	n/a	n/a
12	FOXA2	chr1:184155348-184155636	HepG2	liver:	n/a	n/a
13	GATA2	chr1:184158661-184159005	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr1:184158411-184159429	SH-SY5Y	brain:	n/a	n/a
15	GTF2F1	chr1:184156779-184156801	K562	blood:	n/a	n/a
16	MAFF	chr1:184153088-184153414	HepG2	liver:	n/a	n/a
17	MAFF	chr1:184148835-184149086	HepG2	liver:	n/a	chr1:184148987-184149001 chr1:184148988-184149006
18	MAFK	chr1:184153082-184153420	HepG2	liver:	n/a	n/a
19	MAFK	chr1:184148873-184149082	HepG2	liver:	n/a	chr1:184148987-184149001
20	MAFK	chr1:184155583-184155784	HepG2	liver:	n/a	n/a
21	MAFK	chr1:184153120-184153414	IMR90	lung:	n/a	n/a
22	MAFK	chr1:184148884-184149050	HepG2	liver:	n/a	chr1:184148987-184149001
23	MAFK	chr1:184153108-184153395	HepG2	liver:	n/a	n/a
24	MYC	chr1:184156858-184156873	MCF-7	breast:	n/a	n/a
25	MYC	chr1:184156842-184156849	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:184149959-184149993	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:184149993-184149999	A549	lung:	n/a	n/a
28	POLR2A	chr1:184156422-184156482	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:184158626-184158772	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:184149988-184149992	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:184149944-184150016	MCF-7	breast:	n/a	n/a
32	POLR2A	chr1:184149957-184149961	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:184148422-184148467	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr1:184149860-184149947	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:184149980-184149982	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:184156714-184156831	Gliobla	brain:	n/a	n/a
37	POLR2A	chr1:184149913-184149946	MCF-7	breast:	n/a	n/a
38	SETDB1	chr1:184157556-184157922	U2OS	brain:	n/a	n/a
39	SPI1	chr1:184150676-184151087	HL-60	blood:	n/a	n/a
40	SPI1	chr1:184150764-184150926	K562	blood:	n/a	n/a
41	STAT3	chr1:184145120-184145273	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr1:184157599-184157724	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:184086799..184089742-chr1:184145271..184147161,2	K562	blood:
2	chr1:184153373..184155879-chr1:184157502..184159009,2	K562	blood:
3	chr1:184153373..184155879-chr1:184157502..184159009,2	K562	blood:
4	chr1:184157500..184160984-chr1:184162695..184165772,3	K562	blood:
5	chr1:184157500..184160343-chr1:184163761..184167011,3	K562	blood:

Variant related genes	Relation type
ENSG00000199840	TF binding region

Extended variants
information (count: 296 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11810038	chr1:184144995-184144996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78036912	chr1:184144997-184144998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557402638	chr1:184144999-184145000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184715761	chr1:184145073-184145074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7540770	chr1:184145110-184145111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572271723	chr1:184145111-184145112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149234933	chr1:184145210-184145211	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188517124	chr1:184145217-184145218	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576655212	chr1:184145297-184145298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9650990	chr1:184145313-184145314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557931895	chr1:184145331-184145332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181327428	chr1:184145363-184145364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75607745	chr1:184145381-184145382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375264128	chr1:184145397-184145398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75263031	chr1:184145427-184145428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143603308	chr1:184145437-184145438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114144914	chr1:184145450-184145451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116406291	chr1:184145477-184145478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563513837	chr1:184145521-184145522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530673653	chr1:184145534-184145535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117802262	chr1:184145538-184145539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568334073	chr1:184145584-184145585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148058763	chr1:184145622-184145623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183682015	chr1:184145637-184145638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12119930	chr1:184145642-184145643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs539585500	chr1:184145695-184145696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189364823	chr1:184145729-184145730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181006198	chr1:184145754-184145755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537318839	chr1:184145765-184145766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563476414	chr1:184145772-184145773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143668481	chr1:184145776-184145777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147188086	chr1:184145794-184145795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12119989	chr1:184145832-184145833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577800554	chr1:184145838-184145839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140845023	chr1:184145849-184145850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187341408	chr1:184145872-184145873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562529848	chr1:184145948-184145949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372015977	chr1:184145965-184145966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563290905	chr1:184145992-184145993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530754521	chr1:184146031-184146032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192111875	chr1:184146046-184146047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561219201	chr1:184146077-184146078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181364033	chr1:184146145-184146146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573701474	chr1:184146155-184146156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552356393	chr1:184146185-184146186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547377205	chr1:184146257-184146258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185914714	chr1:184146260-184146261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189983189	chr1:184146281-184146282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182614921	chr1:184146288-184146289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570117206	chr1:184146298-184146299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184144800-184145800	Enhancers	Liver	Liver
2	chr1:184145800-184148800	Weak transcription	Liver	Liver
3	chr1:184148800-184149400	Enhancers	Liver	Liver
4	chr1:184149800-184150000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:184155400-184156800	Enhancers	Fetal Heart	heart
6	chr1:184156400-184157000	Enhancers	Left Ventricle	heart
7	chr1:184156600-184157000	Enhancers	Right Ventricle	heart
8	chr1:184156600-184158000	Enhancers	NHDF-Ad	bronchial
9	chr1:184156800-184157200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:184156800-184157200	Enhancers	NHLF	lung
11	chr1:184156800-184157800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:184156800-184157800	Weak transcription	Fetal Heart	heart
13	chr1:184157000-184157200	Bivalent Enhancer	Osteobl	bone
14	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
15	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
16	chr1:184157200-184157600	Weak transcription	NHLF	lung
17	chr1:184157600-184157800	Enhancers	NHLF	lung
18	chr1:184157800-184160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:184157800-184160000	Weak transcription	NHLF	lung
20	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
21	chr1:184158200-184158600	Enhancers	Brain Germinal Matrix	brain
22	chr1:184158200-184159400	Enhancers	Fetal Brain Male	brain
23	chr1:184158400-184158600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:184158600-184159000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:184158600-184159000	Enhancers	Fetal Lung	lung
26	chr1:184158600-184159600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:184158600-184160800	Enhancers	Fetal Brain Female	brain
28	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach

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