Variant report

Variant	nsv877083
Chromosome Location	chr3:84720982-84819147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:84730033-84730076	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr3:84774057-84774336	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:84767168-84767493	HepG2	liver:	n/a	chr3:84767339-84767348 chr3:84767338-84767349 chr3:84767337-84767348
4	CEBPB	chr3:84804907-84805204	HepG2	liver:	n/a	chr3:84805028-84805039
5	CEBPB	chr3:84734635-84734997	IMR90	lung:	n/a	chr3:84734701-84734713
6	CEBPB	chr3:84734637-84734996	HepG2	liver:	n/a	chr3:84734701-84734713
7	CEBPB	chr3:84734687-84734980	Hela-S3	cervix:	n/a	chr3:84734701-84734713
8	CEBPB	chr3:84804939-84805174	A549	lung:	n/a	chr3:84805028-84805039
9	CEBPB	chr3:84734630-84734980	H1-hESC	embryonic stem cell:	n/a	chr3:84734701-84734713
10	CEBPB	chr3:84734656-84734969	K562	blood:	n/a	chr3:84734701-84734713
11	CEBPB	chr3:84781909-84782268	HepG2	liver:	n/a	n/a
12	CEBPB	chr3:84741121-84741376	HepG2	liver:	n/a	chr3:84741271-84741282
13	CEBPB	chr3:84781948-84782264	A549	lung:	n/a	n/a
14	CTCF	chr3:84744700-84744850	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr3:84760983-84761034	LNCaP	prostate:	n/a	n/a
16	CTCF	chr3:84770857-84770903	ProgFib	skin:	n/a	n/a
17	CTCF	chr3:84727613-84727639	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr3:84774204-84774274	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:84760816-84760868	GM13976	blood:	n/a	n/a
20	CTCF	chr3:84759548-84759599	LNCaP	prostate:	n/a	n/a
21	CTCF	chr3:84810593-84810675	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr3:84770911-84770979	GM13976	blood:	n/a	n/a
23	CTCF	chr3:84770868-84770893	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:84803084-84803156	LNCaP	prostate:	n/a	n/a
25	E2F4	chr3:84807133-84807249	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr3:84774078-84774317	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr3:84791462-84791662	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr3:84754924-84755118	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr3:84751273-84751481	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr3:84781008-84781173	GM12878	blood:	n/a	n/a
31	EBF1	chr3:84774045-84774680	GM12878	blood:	n/a	chr3:84774284-84774295
32	EBF1	chr3:84774102-84774360	GM12878	blood:	n/a	chr3:84774284-84774295
33	EP300	chr3:84799148-84799486	T-47D	breast:	n/a	n/a
34	EP300	chr3:84774119-84774390	Hela-S3	cervix:	n/a	n/a
35	FOS	chr3:84734357-84734555	MCF10A-Er-Src	breast:	n/a	chr3:84734435-84734442
36	FOS	chr3:84774059-84774676	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr3:84781949-84782306	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr3:84741439-84741755	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr3:84789764-84790022	MCF10A-Er-Src	breast:	n/a	chr3:84789838-84789845 chr3:84789838-84789847 chr3:84789837-84789846 chr3:84789838-84789846
40	FOS	chr3:84744788-84744988	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:84793229-84793429	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:84744399-84745016	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:84781950-84782282	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:84741431-84741749	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:84774032-84774466	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:84782025-84782266	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr3:84805039-84805089	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr3:84744795-84744996	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr3:84776609-84776869	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr3:84744743-84744964	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:84716502..84719314-chr3:84721003..84723364,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VGLL3-6	chr3:84745309-84745492	NONHSAT090649
2	lnc-VGLL3-9	chr3:84798241-84801697	ucscGeneNc_uc003dqi_2
3	lnc-VGLL3-6	chr3:84744516-84744666	NONHSAT090649
4	lnc-VGLL3-6	chr3:84744516-84744666	ENSG00000242641.1
5	lnc-VGLL3-10	chr3:84740832-84741742	NONHSAT090650
6	lnc-VGLL3-9	chr3:84803425-84803544	ucscGeneNc_uc003dqi_2
7	lnc-VGLL3-6	chr3:84744861-84745033	ENSG00000242641.1
8	lnc-VGLL3-6	chr3:84795196-84795488	ENSG00000242641.1
9	lnc-VGLL3-9	chr3:84815450-84815519	ucscGeneNc_uc003dqi_2
10	lnc-VGLL3-9	chr3:84817481-84817621	ucscGeneNc_uc003dqi_2
11	lnc-VGLL3-6	chr3:84795196-84795488	NONHSAT090649
12	lnc-VGLL3-9	chr3:84770247-84771053	ucscGeneNc_uc003dqi_2
13	lnc-VGLL3-6	chr3:84732760-84732829	NONHSAT090649
14	lnc-VGLL3-9	chr3:84776054-84776127	ucscGeneNc_uc003dqi_2
15	lnc-VGLL3-6	chr3:84734791-84734931	NONHSAT090649
16	lnc-VGLL3-6	chr3:84744861-84745033	NONHSAT090649
17	lnc-VGLL3-6	chr3:84721772-84722056	NONHSAT090649
18	lnc-VGLL3-6	chr3:84745309-84745492	ENSG00000242641.1
19	lnc-VGLL3-6	chr3:84734791-84734931	ENSG00000242641.1
20	lnc-VGLL3-6	chr3:84732760-84732829	ENSG00000242641.1
21	lnc-VGLL3-9	chr3:84804462-84804746	ucscGeneNc_uc003dqi_2
22	lnc-VGLL3-6	chr3:84721772-84722056	ENSG00000242641.1

No data

Variant related genes	Relation type
ENSG00000241776	TF binding region

Extended variants
information (count: 1549 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111737644	chr3:84720982-84720983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111464564	chr3:84720983-84720984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573858443	chr3:84720994-84720995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377282475	chr3:84721006-84721007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116545074	chr3:84721019-84721020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73845534	chr3:84721039-84721040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544921665	chr3:84721051-84721052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577423467	chr3:84721105-84721106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376722609	chr3:84721124-84721125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192673144	chr3:84721202-84721203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563461397	chr3:84721212-84721213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575198705	chr3:84721213-84721214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565068797	chr3:84721262-84721263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185463851	chr3:84721263-84721264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561157061	chr3:84721273-84721274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369997859	chr3:84721334-84721335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188281495	chr3:84721341-84721342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528781298	chr3:84721379-84721380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529992902	chr3:84721409-84721410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193271615	chr3:84721422-84721423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565439553	chr3:84721432-84721433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374335437	chr3:84721456-84721457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529972003	chr3:84721499-84721500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551475040	chr3:84721529-84721530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569784252	chr3:84721539-84721540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184812080	chr3:84721547-84721548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537177544	chr3:84721571-84721572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530860755	chr3:84721593-84721594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188304401	chr3:84721594-84721595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77995313	chr3:84721603-84721604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534876390	chr3:84721617-84721618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550908867	chr3:84721633-84721634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552993088	chr3:84721672-84721673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180709207	chr3:84721692-84721693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4437159	chr3:84721696-84721697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556768399	chr3:84721744-84721745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13089162	chr3:84721771-84721772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183753645	chr3:84721801-84721802	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs561328641	chr3:84721839-84721840	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs73845535	chr3:84721908-84721909	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540876074	chr3:84721932-84721933	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs570457157	chr3:84721943-84721944	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565600007	chr3:84721977-84721978	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113989635	chr3:84722031-84722032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs9856243	chr3:84722059-84722060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188860592	chr3:84722071-84722072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544804216	chr3:84722119-84722120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563122115	chr3:84722128-84722129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530619237	chr3:84722151-84722152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376455458	chr3:84722227-84722228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84720200-84722000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:84722000-84729800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:84729800-84730400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:84731600-84732000	Active TSS	Fetal Heart	heart
5	chr3:84732800-84733400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:84741400-84741800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:84744600-84744800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:84744800-84745000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:84759000-84759200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr3:84759200-84759400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr3:84759200-84759600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:84759400-84759800	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:84759800-84760200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:84759800-84760200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr3:84760200-84762400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:84760200-84762600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:84762400-84762600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:84762600-84763000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:84762600-84763200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr3:84763000-84763400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:84766600-84767400	Enhancers	Psoas Muscle	Psoas
22	chr3:84767200-84767600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:84767200-84767600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:84767200-84767600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:84773800-84775000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:84774200-84774800	Enhancers	HSMM	muscle
27	chr3:84774800-84776200	Weak transcription	HSMM	muscle
28	chr3:84775000-84776400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:84776200-84776600	Enhancers	HSMM	muscle
30	chr3:84776400-84777200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:84777800-84778200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:84786400-84787200	Enhancers	Fetal Brain Female	brain
33	chr3:84786800-84787800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:84787000-84787400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:84787000-84787400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:84787200-84791600	Weak transcription	Fetal Brain Female	brain
37	chr3:84787400-84787800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:84787800-84788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:84788600-84788800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:84791600-84793200	Enhancers	Fetal Brain Female	brain
41	chr3:84792000-84793200	Enhancers	Fetal Brain Male	brain
42	chr3:84792800-84793200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:84793200-84794600	Weak transcription	Fetal Brain Female	brain
44	chr3:84794800-84795000	Enhancers	Fetal Brain Female	brain
45	chr3:84805200-84805400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:84805400-84806000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:84806000-84806200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:84806200-84806400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:84806400-84806600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:84806400-84808800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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