Variant report

Variant	nsv965188
Chromosome Location	chr3:94655270-94656575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:94654780-94655402	MCF-7	breast:	n/a	chr3:94655228-94655241
2	FOS	chr3:94655184-94655429	MCF10A-Er-Src	breast:	n/a	chr3:94655320-94655330
3	FOS	chr3:94655898-94655950	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:94655184-94655463	MCF10A-Er-Src	breast:	n/a	chr3:94655320-94655330
5	FOSL2	chr3:94655041-94655567	MCF-7	breast:	n/a	chr3:94655520-94655534 chr3:94655320-94655330
6	GATA3	chr3:94654846-94655296	T-47D	breast:	n/a	n/a
7	GATA3	chr3:94654617-94655585	MCF-7	breast:	n/a	n/a
8	GATA3	chr3:94654592-94655454	MCF-7	breast:	n/a	n/a
9	GATA3	chr3:94654596-94655577	MCF-7	breast:	n/a	n/a
10	HDAC2	chr3:94654779-94655392	MCF-7	breast:	n/a	n/a
11	HDAC2	chr3:94654739-94655431	MCF-7	breast:	n/a	n/a
12	JUND	chr3:94655805-94656097	HepG2	liver:	n/a	chr3:94655924-94655935
13	JUND	chr3:94655775-94656028	K562	blood:	n/a	chr3:94655924-94655935
14	MAX	chr3:94654831-94655401	MCF-7	breast:	n/a	n/a
15	MYC	chr3:94655095-94655290	MCF-7	breast:	n/a	n/a
16	NR2F2	chr3:94654655-94655611	MCF-7	breast:	n/a	n/a
17	POLR2A	chr3:94656572-94657237	K562	blood:	n/a	n/a
18	RFX5	chr3:94655185-94655508	Hela-S3	cervix:	n/a	n/a
19	SIN3AK20	chr3:94654450-94655668	MCF-7	breast:	n/a	n/a
20	TEAD4	chr3:94654878-94655279	MCF-7	breast:	n/a	chr3:94655059-94655068
21	TEAD4	chr3:94654779-94655347	MCF-7	breast:	n/a	chr3:94655059-94655068
22	USF2	chr3:94655238-94655438	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:94656226-94656276	BJ	skin:	n/a
2	chr3:94656226-94656276	CMK	blood:	n/a
3	chr3:94656226-94656276	NT2-D1	testis:	n/a
4	chr3:94655498-94655548	SK-N-SH	brain:	n/a
5	chr3:94656226-94656276	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:94656226-94656276	HCT-116	colon:	n/a
7	chr3:94656226-94656276	ovcar-3	ovarian:	n/a
8	chr3:94655498-94655548	HUVEC	blood vessel:	n/a
9	chr3:94655498-94655548	HCF	heart:	n/a
10	chr3:94655498-94655548	Hepatocyte	liver:	n/a
11	chr3:94655498-94655548	AG04449	skin:	fetal
12	chr3:94655498-94655548	HRPEpiC	eye:	n/a
13	chr3:94656226-94656276	HCF	heart:	n/a
14	chr3:94656226-94656276	HRPEpiC	eye:	n/a
15	chr3:94655498-94655548	AG09309	skin:	n/a
16	chr3:94655498-94655548	H1-hESC	embryonic stem cell:	embryo
17	chr3:94656226-94656276	SK-N-MC	brain:	n/a
18	chr3:94656226-94656276	GM19239	blood:	n/a
19	chr3:94656226-94656276	HRCEpiC	kidney:	n/a
20	chr3:94656226-94656276	ECC-1	luminal epithelium:	n/a
21	chr3:94656226-94656276	K562	blood:	n/a
22	chr3:94655498-94655548	AG09319	gingival:	n/a
23	chr3:94656226-94656276	GM12892	blood:	n/a
24	chr3:94655498-94655548	HEK293	kidney:	embryo
25	chr3:94656226-94656276	A549	lung:	n/a
26	chr3:94656226-94656276	IMR90	lung:	fetal
27	chr3:94656226-94656276	SK-N-SH_RA	brain:	n/a
28	chr3:94655498-94655548	SK-N-SH_RA	brain:	n/a
29	chr3:94656226-94656276	T-47D	breast:	n/a
30	chr3:94655498-94655548	HEEpiC	esophagus:	n/a
31	chr3:94656226-94656276	LNCaP	prostate:	n/a
32	chr3:94655498-94655548	NB4	blood:	n/a
33	chr3:94655498-94655548	ECC-1	luminal epithelium:	n/a
34	chr3:94656226-94656276	HL-60	blood:	n/a
35	chr3:94656226-94656276	PrEC	prostate:	n/a
36	chr3:94655498-94655548	HepG2	liver:	n/a
37	chr3:94655498-94655548	HCPEpiC	choroid plexus:	n/a
38	chr3:94655498-94655548	HCM	heart:	n/a
39	chr3:94656226-94656276	HAEpiC	amniotic membrane:	n/a
40	chr3:94655498-94655548	HIPEpiC	eye:	n/a
41	chr3:94656226-94656276	Caco-2	colon:	n/a
42	chr3:94655498-94655548	SKMC	muscle:	n/a
43	chr3:94656226-94656276	NH-A	brain:	n/a
44	chr3:94655498-94655548	GM12878	blood:	n/a
45	chr3:94656226-94656276	U87	brain:	n/a
46	chr3:94656226-94656276	NB4	blood:	n/a
47	chr3:94655498-94655548	GM06990	blood:	n/a
48	chr3:94655498-94655548	U87	brain:	n/a
49	chr3:94655498-94655548	MCF-7	breast:	n/a
50	chr3:94655498-94655548	GM19239	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000242911	TF binding region
LINC00879	TF binding region
ENSG00000242911	CpG island
LINC00879	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572341366	chr3:94655316-94655317	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs541306722	chr3:94655345-94655346	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs115388004	chr3:94655356-94655357	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs189461656	chr3:94655371-94655372	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs543806537	chr3:94655377-94655378	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs180721656	chr3:94655392-94655393	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs529426600	chr3:94655504-94655505	Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs150828508	chr3:94655540-94655541	Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs1991753	chr3:94655549-94655550	Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs116574314	chr3:94655552-94655553	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs547371817	chr3:94655553-94655554	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs375105943	chr3:94655564-94655565	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs570733882	chr3:94655597-94655598	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs185163959	chr3:94655607-94655608	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs9854610	chr3:94655641-94655642	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs569378813	chr3:94655696-94655697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535164982	chr3:94655719-94655720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535069706	chr3:94655740-94655741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189665432	chr3:94655808-94655809	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs565933157	chr3:94655848-94655849	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs535265259	chr3:94655862-94655863	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs145452129	chr3:94655892-94655893	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs372219610	chr3:94655898-94655899	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs578196909	chr3:94655900-94655901	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs2163677	chr3:94655911-94655912	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181309628	chr3:94655926-94655927	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs574115641	chr3:94655967-94655968	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs369428604	chr3:94656023-94656024	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs543120969	chr3:94656124-94656125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140546011	chr3:94656152-94656153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78279059	chr3:94656157-94656158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1821204	chr3:94656158-94656159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572260203	chr3:94656269-94656270	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs541224582	chr3:94656285-94656286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114115021	chr3:94656295-94656296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61732709	chr3:94656340-94656341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61741851	chr3:94656372-94656373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186722474	chr3:94656388-94656389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549843900	chr3:94656460-94656461	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562925111	chr3:94656503-94656504	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94654400-94655400	Enhancers	Fetal Heart	heart
2	chr3:94654400-94655600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:94654600-94655600	Enhancers	Hela-S3	cervix
4	chr3:94654800-94655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:94655400-94655600	Enhancers	K562	blood
6	chr3:94655600-94656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:94656400-94658600	Active TSS	K562	blood

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