Variant report

Variant	nsv1014108
Chromosome Location	chr3:102945342-102988684
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	chr3:102986581-102986858	HepG2	liver:	n/a	chr3:102986733-102986744
2	CEBPB	chr3:102978349-102978422	HepG2	liver:	n/a	chr3:102978371-102978382
3	CEBPB	chr3:102964444-102964644	A549	lung:	n/a	n/a
4	CEBPB	chr3:102986586-102986694	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr3:102969289-102969582	HepG2	liver:	n/a	chr3:102969410-102969421
6	CTCF	chr3:102952983-102953139	GM10248	blood:	n/a	n/a
7	CTCF	chr3:102954489-102954521	GM10248	blood:	n/a	n/a
8	CTCF	chr3:102946747-102946783	LNCaP	prostate:	n/a	n/a
9	CTCF	chr3:102953005-102953138	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr3:102971360-102971510	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:102971380-102971530	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:102971497-102971505	GM10248	blood:	n/a	n/a
13	CTCF	chr3:102969626-102969728	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr3:102971400-102971550	Hela-S3	cervix:	n/a	n/a
15	E2F4	chr3:102985211-102985250	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr3:102946317-102947898	SK-N-SH	brain:	n/a	chr3:102947492-102947501 chr3:102946726-102946733 chr3:102947177-102947191
17	FOXP2	chr3:102988178-102988411	SK-N-MC	brain:	n/a	n/a
18	GATA3	chr3:102960635-102960668	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr3:102958217-102958440	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr3:102966027-102966205	SH-SY5Y	brain:	n/a	n/a
21	JUND	chr3:102985933-102986149	HepG2	liver:	n/a	chr3:102986000-102986011
22	MAFK	chr3:102967064-102967164	IMR90	lung:	n/a	chr3:102967120-102967140 chr3:102967122-102967138
23	MAFK	chr3:102951163-102951451	HepG2	liver:	n/a	chr3:102951299-102951310 chr3:102951299-102951315 chr3:102951299-102951310 chr3:102951300-102951311
24	MAFK	chr3:102966997-102967261	HepG2	liver:	n/a	chr3:102967120-102967140 chr3:102967122-102967138
25	MAFK	chr3:102951215-102951424	IMR90	lung:	n/a	chr3:102951299-102951310 chr3:102951299-102951315 chr3:102951299-102951310 chr3:102951300-102951311
26	MAFK	chr3:102967065-102967092	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr3:102961419-102961522	HepG2	liver:	n/a	n/a
28	MAX	chr3:102969694-102969695	GM12878	blood:	n/a	n/a
29	NFYB	chr3:102946000-102946200	GM12878	blood:	n/a	n/a
30	NR2F2	chr3:102973170-102973527	K562	blood:	n/a	n/a
31	NR2F2	chr3:102973164-102973532	K562	blood:	n/a	n/a
32	NRF1	chr3:102947664-102947782	H1-hESC	embryonic stem cell:	n/a	n/a
33	PAX5	chr3:102974272-102974735	GM12878	blood:	n/a	n/a
34	PAX5	chr3:102974392-102974690	GM12878	blood:	n/a	n/a
35	PAX5	chr3:102974469-102974624	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:102981995-102982124	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr3:102977027-102977073	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr3:102988388-102988587	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr3:102959748-102959812	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr3:102948937-102948980	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:102959001-102959048	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr3:102985463-102985656	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr3:102967714-102967985	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr3:102981806-102982003	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:102964134-102964271	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr3:102984409-102984534	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:102988105-102988741	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr3:102986000-102986099	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr3:102977520-102977608	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr3:102983701-102983759	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-7	chr3:102959831-102960074	NONHSAT090940

Variant related genes	Relation type
NDUFA4P2	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190019832	chr3:102958224-102958225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs569000167	chr3:102958248-102958249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs115272583	chr3:102958250-102958251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150407324	chr3:102958299-102958300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566885013	chr3:102958334-102958335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138196617	chr3:102958344-102958345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181489213	chr3:102958371-102958372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs149596673	chr3:102958388-102958389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538497161	chr3:102958399-102958400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556918367	chr3:102958421-102958422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527496118	chr3:102959006-102959007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375610476	chr3:102959009-102959010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs144331444	chr3:102959011-102959012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79548476	chr3:102959761-102959762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77750117	chr3:102959847-102959848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs10511208	chr3:102959848-102959849	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572458114	chr3:102959876-102959877	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs543074488	chr3:102959883-102959884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs10737948	chr3:102959934-102959935	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111428832	chr3:102959935-102959936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs550256386	chr3:102959983-102959984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565287870	chr3:102960026-102960027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs182991879	chr3:102960038-102960039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs10511209	chr3:102960039-102960040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs530252948	chr3:102961254-102961255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572429563	chr3:102961259-102961260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542084100	chr3:102961263-102961264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563672887	chr3:102961295-102961296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189022847	chr3:102961318-102961319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552199013	chr3:102961338-102961339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570447022	chr3:102961382-102961383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536675650	chr3:102961394-102961395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528149228	chr3:102961451-102961452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539553563	chr3:102961455-102961456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554663197	chr3:102961485-102961486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368342512	chr3:102961493-102961494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116164157	chr3:102961501-102961502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140430118	chr3:102961552-102961553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1389048	chr3:102961581-102961582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569160547	chr3:102961602-102961603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143645274	chr3:102961624-102961625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181422471	chr3:102961632-102961633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577176196	chr3:102961633-102961634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541099816	chr3:102961649-102961650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553067971	chr3:102961660-102961661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574676736	chr3:102961670-102961671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542047248	chr3:102961684-102961685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373378055	chr3:102961718-102961719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540856600	chr3:102961728-102961729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544526230	chr3:102961740-102961741	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102961200-102962200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:102971400-102971600	Enhancers	Esophagus	oesophagus

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