Variant report

Variant	nsv521514
Chromosome Location	chr3:146647304-146907198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:633)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:146902070-146902979	HepG2	liver:	n/a	n/a
2	CBX3	chr3:146752123-146752575	HCT-116	colon:	n/a	n/a
3	CBX3	chr3:146752237-146752423	K562	blood:	n/a	n/a
4	CBX3	chr3:146752227-146752413	K562	blood:	n/a	n/a
5	CBX3	chr3:146685751-146686637	HCT-116	colon:	n/a	n/a
6	CBX3	chr3:146685849-146686581	HCT-116	colon:	n/a	n/a
7	CEBPB	chr3:146723668-146723949	IMR90	lung:	n/a	chr3:146723818-146723829
8	CEBPB	chr3:146687179-146687451	IMR90	lung:	n/a	n/a
9	CEBPB	chr3:146666800-146667132	Hela-S3	cervix:	n/a	chr3:146666948-146666959
10	CEBPB	chr3:146723680-146723890	HepG2	liver:	n/a	chr3:146723818-146723829
11	CEBPB	chr3:146768067-146768370	IMR90	lung:	n/a	chr3:146768228-146768239
12	CEBPB	chr3:146835463-146835774	MCF-7	breast:	n/a	n/a
13	CEBPB	chr3:146768098-146768323	A549	lung:	n/a	chr3:146768228-146768239
14	CEBPB	chr3:146902563-146902825	HepG2	liver:	n/a	n/a
15	CEBPB	chr3:146685570-146686464	HCT-116	colon:	n/a	n/a
16	CEBPB	chr3:146685262-146686134	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr3:146906774-146907062	IMR90	lung:	n/a	n/a
18	CEBPB	chr3:146666792-146667139	A549	lung:	n/a	chr3:146666948-146666959
19	CEBPB	chr3:146687962-146688145	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:146694613-146694842	HepG2	liver:	n/a	chr3:146694708-146694719 chr3:146694708-146694721
21	CEBPB	chr3:146685602-146686183	IMR90	lung:	n/a	n/a
22	CEBPB	chr3:146686339-146686461	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr3:146902492-146902968	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:146666856-146667157	MCF-7	breast:	n/a	chr3:146666948-146666959
25	CEBPB	chr3:146666869-146667104	A549	lung:	n/a	chr3:146666948-146666959
26	CEBPB	chr3:146666777-146667143	K562	blood:	n/a	chr3:146666948-146666959
27	CEBPB	chr3:146666770-146667146	IMR90	lung:	n/a	chr3:146666948-146666959
28	CEBPB	chr3:146715450-146715793	HepG2	liver:	n/a	n/a
29	CEBPB	chr3:146903574-146903879	HepG2	liver:	n/a	n/a
30	CEBPB	chr3:146666865-146667078	ECC-1	luminal epithelium:	n/a	chr3:146666948-146666959
31	CEBPB	chr3:146805457-146805698	HepG2	liver:	n/a	chr3:146805474-146805487 chr3:146805476-146805487
32	CEBPB	chr3:146666769-146667143	HepG2	liver:	n/a	chr3:146666948-146666959
33	CEBPB	chr3:146685521-146686346	HCT-116	colon:	n/a	n/a
34	CEBPB	chr3:146666819-146667156	MCF-7	breast:	n/a	chr3:146666948-146666959
35	CEBPB	chr3:146768077-146768388	HepG2	liver:	n/a	chr3:146768228-146768239
36	CEBPB	chr3:146780117-146780277	A549	lung:	n/a	n/a
37	CEBPB	chr3:146805441-146805642	K562	blood:	n/a	chr3:146805474-146805487 chr3:146805476-146805487
38	CEBPB	chr3:146666764-146667147	H1-hESC	embryonic stem cell:	n/a	chr3:146666948-146666959
39	CEBPB	chr3:146666824-146667006	HepG2	liver:	n/a	chr3:146666948-146666959
40	CEBPB	chr3:146666799-146667103	ECC-1	luminal epithelium:	n/a	chr3:146666948-146666959
41	CEBPB	chr3:146848265-146848581	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr3:146902549-146902935	HepG2	liver:	n/a	n/a
43	CTCF	chr3:146838008-146838039	ProgFib	skin:	n/a	chr3:146838011-146838032
44	CTCF	chr3:146837960-146838110	HEEpiC	esophagus:	n/a	chr3:146838011-146838032
45	CTCF	chr3:146770120-146770270	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:146847702-146847745	GM13977	blood:	n/a	n/a
47	CTCF	chr3:146838020-146838170	HMEC	breast:	n/a	n/a
48	CTCF	chr3:146837858-146838154	HUVEC	blood vessel:	n/a	chr3:146838011-146838032
49	CTCF	chr3:146861110-146861161	GM20000	blood:	n/a	n/a
50	CTCF	chr3:146837860-146838010	HRE	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:146756728-146756778	HCPEpiC	choroid plexus:	n/a
2	chr3:146756728-146756778	K562	blood:	n/a
3	chr3:146756728-146756778	HL-60	blood:	n/a
4	chr3:146756728-146756778	MCF10A-Er-Src	breast:	n/a
5	chr3:146756728-146756778	ProgFib	skin:	n/a
6	chr3:146756728-146756778	AG04450	lung:	fetal
7	chr3:146756728-146756778	PFSK-1	brain:	n/a
8	chr3:146756728-146756778	A549	lung:	n/a
9	chr3:146756728-146756778	SK-N-SH	brain:	n/a
10	chr3:146756728-146756778	BJ	skin:	n/a
11	chr3:146756728-146756778	AG09309	skin:	n/a
12	chr3:146756728-146756778	NHBE	bronchial:	n/a
13	chr3:146756728-146756778	SKMC	muscle:	n/a
14	chr3:146756728-146756778	HCT-116	colon:	n/a
15	chr3:146756728-146756778	AG04449	skin:	fetal
16	chr3:146756728-146756778	HNPCEpiC	eye:	n/a
17	chr3:146756728-146756778	HRE	kidney:	n/a
18	chr3:146756728-146756778	U87	brain:	n/a
19	chr3:146756728-146756778	RPTEC	kidney:	n/a
20	chr3:146756728-146756778	AoSMC	blood vessel:	n/a
21	chr3:146756728-146756778	HIPEpiC	eye:	n/a
22	chr3:146756728-146756778	Caco-2	colon:	n/a
23	chr3:146756728-146756778	GM12878	blood:	n/a
24	chr3:146756728-146756778	PANC-1	pancreas:	n/a
25	chr3:146756728-146756778	SAEC	small airway:	n/a
26	chr3:146756728-146756778	GM19239	blood:	n/a
27	chr3:146756728-146756778	GM12891	blood:	n/a
28	chr3:146756728-146756778	HepG2	liver:	n/a
29	chr3:146756728-146756778	MCF-7	breast:	n/a
30	chr3:146756728-146756778	ovcar-3	ovarian:	n/a
31	chr3:146756728-146756778	HEK293	kidney:	embryo
32	chr3:146756728-146756778	HEEpiC	esophagus:	n/a
33	chr3:146756728-146756778	SK-N-MC	brain:	n/a
34	chr3:146756728-146756778	LNCaP	prostate:	n/a
35	chr3:146756728-146756778	AG09319	gingival:	n/a
36	chr3:146756728-146756778	HCF	heart:	n/a
37	chr3:146756728-146756778	NHDF-neo	bronchial:	n/a
38	chr3:146756728-146756778	HRPEpiC	eye:	n/a
39	chr3:146756728-146756778	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:146756728-146756778	HUVEC	blood vessel:	n/a
41	chr3:146756728-146756778	Hepatocyte	liver:	n/a
42	chr3:146756728-146756778	SK-N-SH_RA	brain:	n/a
43	chr3:146756728-146756778	HCM	heart:	n/a
44	chr3:146756728-146756778	Jurkat	blood:	n/a
45	chr3:146756728-146756778	NT2-D1	testis:	n/a
46	chr3:146756728-146756778	NH-A	brain:	n/a
47	chr3:146756728-146756778	AG10803	skin:	n/a
48	chr3:146756728-146756778	GM12892	blood:	n/a
49	chr3:146756728-146756778	H1-hESC	embryonic stem cell:	embryo
50	chr3:146756728-146756778	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:146837603..146838491-chr3:146909373..146910222,2	MCF-7	breast:
2	chr3:146698311..146701060-chr3:146701293..146703528,2	MCF-7	breast:
3	chr3:146698311..146701060-chr3:146701293..146703528,2	MCF-7	breast:
4	chr3:146714192..146714735-chr3:146728166..146728967,2	MCF-7	breast:
5	chr3:146862726..146863568-chr7:549720..550401,2	MCF-7	breast:
6	chr3:146715446..146717460-chr3:146722255..146724620,2	K562	blood:
7	chr3:146724156..146724656-chr7:158811116..158812074,2	MCF-7	breast:
8	chr3:146715446..146717460-chr3:146722255..146724620,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZIC4-3	chr3:146874252-146874348	ENSG00000243620.1
2	lnc-ZIC4-5	chr3:146760793-146761118	NONHSAT092573
3	lnc-ZIC4-5	chr3:146761390-146761517	NONHSAT092573

No data

Variant related genes	Relation type
RNU6-505P	TF binding region
ENSG00000251800	TF binding region
RNU6-505P	CpG island
ENSG00000251800	CpG island
ENSG00000207156	chromatin interactions

Extended variants
information (count: 3570 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3570 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567485980	chr3:146647854-146647855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73164804	chr3:146647939-146647940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138764679	chr3:146647958-146647959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530836035	chr3:146647964-146647965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375230692	chr3:146647985-146647986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76262876	chr3:146647990-146647991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557513187	chr3:146648015-146648016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577798638	chr3:146648024-146648025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543511087	chr3:146648070-146648071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190948859	chr3:146648114-146648115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534794501	chr3:146648117-146648118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573836910	chr3:146648164-146648165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564119674	chr3:146650802-146650803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147716128	chr3:146650814-146650815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183172106	chr3:146650833-146650834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142569163	chr3:146650850-146650851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532868088	chr3:146650853-146650854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528033443	chr3:146650868-146650869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539823697	chr3:146650871-146650872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561207376	chr3:146650877-146650878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187704532	chr3:146650878-146650879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4610191	chr3:146650887-146650888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549407475	chr3:146650932-146650933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143497542	chr3:146650945-146650946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531396016	chr3:146650970-146650971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548414523	chr3:146650990-146650991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561145006	chr3:146651062-146651063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528451791	chr3:146651071-146651072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117976584	chr3:146651107-146651108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546574159	chr3:146651128-146651129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553797919	chr3:146651143-146651144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546732875	chr3:146651152-146651153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567434256	chr3:146651230-146651231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546710907	chr3:146651248-146651249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570832866	chr3:146651249-146651250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539844179	chr3:146651272-146651273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571464812	chr3:146651277-146651278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192579197	chr3:146651313-146651314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201364063	chr3:146651334-146651335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576649708	chr3:146651341-146651342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542054810	chr3:146651369-146651370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571634709	chr3:146651372-146651373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184991908	chr3:146651379-146651380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57634109	chr3:146651399-146651400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187707412	chr3:146651581-146651582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192201843	chr3:146651661-146651662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532694916	chr3:146651667-146651668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564646087	chr3:146651681-146651682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531942768	chr3:146651767-146651768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545436077	chr3:146651778-146651779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146647800-146648200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:146650800-146651400	Enhancers	Dnd41	blood
3	chr3:146651400-146653000	Weak transcription	Dnd41	blood
4	chr3:146653000-146654200	Enhancers	Dnd41	blood
5	chr3:146666000-146666600	Enhancers	Dnd41	blood
6	chr3:146666400-146666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:146670800-146671200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:146671000-146671200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:146671200-146671400	Flanking Active TSS	Osteobl	bone
10	chr3:146671200-146671600	Enhancers	NH-A	brain
11	chr3:146671200-146671800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:146671200-146671800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:146671200-146671800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:146671200-146671800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:146671200-146671800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:146671200-146671800	Enhancers	Fetal Brain Male	brain
17	chr3:146671200-146671800	Enhancers	NHDF-Ad	bronchial
18	chr3:146671200-146672000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:146671200-146672000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:146671200-146672000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:146671200-146672200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:146671400-146672000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:146671400-146672000	Enhancers	Fetal Lung	lung
24	chr3:146671400-146672200	Enhancers	Osteobl	bone
25	chr3:146671600-146671800	Flanking Active TSS	NH-A	brain
26	chr3:146671800-146672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:146671800-146672000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:146671800-146672200	Enhancers	NH-A	brain
29	chr3:146671800-146674400	Weak transcription	Fetal Brain Male	brain
30	chr3:146671800-146684800	Weak transcription	NHDF-Ad	bronchial
31	chr3:146672000-146672200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:146672000-146675800	Weak transcription	Fetal Lung	lung
33	chr3:146674400-146674800	Enhancers	Fetal Brain Male	brain
34	chr3:146675800-146676000	Enhancers	Fetal Lung	lung
35	chr3:146684000-146684200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:146684000-146685600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:146684400-146685400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:146684400-146687200	Enhancers	Hela-S3	cervix
39	chr3:146684600-146685800	Enhancers	Osteobl	bone
40	chr3:146684600-146687600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:146684800-146685400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:146684800-146685800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:146684800-146685800	Enhancers	NHDF-Ad	bronchial
44	chr3:146684800-146686000	Enhancers	NHLF	lung
45	chr3:146684800-146686200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:146684800-146686200	Enhancers	HSMMtube	muscle
47	chr3:146684800-146686600	Enhancers	HSMM	muscle
48	chr3:146685000-146685800	Enhancers	NH-A	brain
49	chr3:146685000-146687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:146685000-146688200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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