Variant report

Variant	nsv877211
Chromosome Location	chr3:97919363-97958280
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	BATF	chr3:97952380-97952574	GM12878	blood:	n/a	n/a
2	BCL11A	chr3:97951400-97951563	GM12878	blood:	n/a	n/a
3	BCL11A	chr3:97952351-97952515	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:97943474-97943485	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:97951405-97952685	GM12878	blood:	n/a	n/a
6	BRCA1	chr3:97939937-97940001	GM12878	blood:	n/a	n/a
7	CEBPB	chr3:97922385-97922736	HepG2	liver:	n/a	chr3:97922556-97922567
8	CEBPB	chr3:97922385-97922691	A549	lung:	n/a	chr3:97922556-97922567
9	CHD1	chr3:97942962-97942975	GM12878	blood:	n/a	n/a
10	CHD1	chr3:97952484-97952829	GM12878	blood:	n/a	n/a
11	CHD2	chr3:97952077-97952654	GM12878	blood:	n/a	n/a
12	CTCF	chr3:97952340-97952490	GM06990	blood:	n/a	n/a
13	CTCF	chr3:97957348-97957372	GM13977	blood:	n/a	n/a
14	CTCF	chr3:97952400-97952550	GM12868	blood:	n/a	n/a
15	CTCF	chr3:97924040-97924190	GM12869	blood:	n/a	n/a
16	CTCF	chr3:97952340-97952490	GM12873	blood:	n/a	n/a
17	CTCF	chr3:97952320-97952470	GM12872	blood:	n/a	n/a
18	CTCF	chr3:97926264-97926295	LNCaP	prostate:	n/a	n/a
19	CTCF	chr3:97952380-97952530	GM12878	blood:	n/a	n/a
20	CTCF	chr3:97952360-97952510	GM12873	blood:	n/a	n/a
21	CUX1	chr3:97954941-97955041	GM12878	blood:	n/a	n/a
22	CUX1	chr3:97950242-97950304	GM12878	blood:	n/a	n/a
23	CUX1	chr3:97951097-97951764	GM12878	blood:	n/a	n/a
24	CUX1	chr3:97952186-97952580	GM12878	blood:	n/a	n/a
25	E2F4	chr3:97956249-97956436	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr3:97925082-97925346	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F6	chr3:97945258-97945608	H1-hESC	embryonic stem cell:	n/a	n/a
28	EBF1	chr3:97952207-97952623	GM12878	blood:	n/a	n/a
29	EBF1	chr3:97952295-97952631	GM12878	blood:	n/a	n/a
30	EBF1	chr3:97954436-97955224	GM12878	blood:	n/a	chr3:97954988-97954999 chr3:97954989-97954999 chr3:97954988-97955001 chr3:97954990-97954999
31	EBF1	chr3:97953388-97953441	GM12878	blood:	n/a	n/a
32	EBF1	chr3:97942889-97943689	GM12878	blood:	n/a	n/a
33	EBF1	chr3:97950253-97951851	GM12878	blood:	n/a	n/a
34	EBF1	chr3:97952104-97952725	GM12878	blood:	n/a	n/a
35	EBF1	chr3:97955751-97955777	GM12878	blood:	n/a	n/a
36	ELK1	chr3:97950909-97950973	GM12878	blood:	n/a	n/a
37	EP300	chr3:97942865-97943065	GM12878	blood:	n/a	chr3:97942875-97942884 chr3:97942874-97942883
38	EP300	chr3:97952127-97952625	GM12878	blood:	n/a	n/a
39	EP300	chr3:97943284-97943397	GM12878	blood:	n/a	n/a
40	EP300	chr3:97950308-97950601	GM12878	blood:	n/a	chr3:97950574-97950588
41	EP300	chr3:97951405-97951686	GM12878	blood:	n/a	n/a
42	EP300	chr3:97942493-97942522	GM12878	blood:	n/a	n/a
43	FOS	chr3:97945322-97945450	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:97928334-97928502	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr3:97942825-97942886	MCF10A-Er-Src	breast:	n/a	chr3:97942875-97942883 chr3:97942876-97942883 chr3:97942875-97942884 chr3:97942874-97942883
46	IKZF1	chr3:97952407-97952731	GM12878	blood:	n/a	n/a
47	JUN	chr3:97928145-97928303	HepG2	liver:	n/a	chr3:97928270-97928279 chr3:97928270-97928280 chr3:97928271-97928279 chr3:97928272-97928279 chr3:97928271-97928280
48	JUND	chr3:97928111-97928434	HepG2	liver:	n/a	chr3:97928270-97928279 chr3:97928270-97928280 chr3:97928271-97928279 chr3:97928272-97928279 chr3:97928271-97928280 chr3:97928269-97928280
49	MAFK	chr3:97937766-97937953	IMR90	lung:	n/a	n/a
50	MAX	chr3:97952237-97952646	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187
2	lnc-OR5H6-1	chr3:97952495-97952520	ENSG00000251088.1
3	lnc-MINA-2	chr3:97949910-97950089	XLOC_003187
4	lnc-MINA-2	chr3:97949910-97950089	XLOC_003187
5	lnc-MINA-6	chr3:97923366-97923509	NONHSAT090787
6	lnc-MINA-2	chr3:97954345-97954692	XLOC_003187
7	lnc-MINA-2	chr3:97954530-97954692	XLOC_003187
8	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187
9	lnc-MINA-2	chr3:97956121-97956217	XLOC_003187
10	lnc-MINA-2	chr3:97955718-97955882	XLOC_003187
11	lnc-MINA-6	chr3:97925331-97925450	NONHSAT090787
12	lnc-MINA-2	chr3:97956121-97956219	XLOC_003187
13	lnc-MINA-2	chr3:97956121-97956211	XLOC_003187

Variant related genes	Relation type
OR5H7P	TF binding region
OR5H4P	TF binding region
OR5H3P	TF binding region
ENSG00000251088	TF binding region
POU2F1	miRNA target sites

Extended variants
information (count: 1668 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1668 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12695682	chr3:97919363-97919364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149867330	chr3:97919384-97919385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79381044	chr3:97919388-97919389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12695683	chr3:97919410-97919411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs578232583	chr3:97919411-97919412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78734280	chr3:97919427-97919428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557338058	chr3:97919462-97919463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12695684	chr3:97919463-97919464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs182858695	chr3:97919495-97919496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559359972	chr3:97919521-97919522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146428073	chr3:97919540-97919541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545123909	chr3:97919571-97919572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377349768	chr3:97919606-97919607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116280868	chr3:97919608-97919609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13433842	chr3:97919629-97919630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550772167	chr3:97919646-97919647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538974618	chr3:97919680-97919681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554063293	chr3:97919702-97919703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113972124	chr3:97919755-97919756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567401026	chr3:97919772-97919773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12489398	chr3:97919773-97919774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs187925784	chr3:97919774-97919775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12330386	chr3:97919785-97919786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113830926	chr3:97919789-97919790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13433847	chr3:97919805-97919806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568991631	chr3:97919807-97919808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145909059	chr3:97919843-97919844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113443482	chr3:97919857-97919858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574239955	chr3:97919867-97919868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553519208	chr3:97919901-97919902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552924936	chr3:97919905-97919906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572934894	chr3:97919921-97919922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545016731	chr3:97919925-97919926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565009846	chr3:97919931-97919932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13090539	chr3:97919952-97919953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544036799	chr3:97919953-97919954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145087248	chr3:97919990-97919991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561178642	chr3:97919993-97919994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192395752	chr3:97920008-97920009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57250154	chr3:97920014-97920015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs538085985	chr3:97920019-97920020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532114287	chr3:97920073-97920074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552225897	chr3:97920076-97920077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568928063	chr3:97920086-97920087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs885605	chr3:97920095-97920096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537984681	chr3:97920151-97920152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115004656	chr3:97920156-97920157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146602230	chr3:97920164-97920165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578025881	chr3:97920165-97920166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112695091	chr3:97920173-97920174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97917800-97927600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:97923600-97927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:97926400-97926600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:97926600-97927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:97927600-97927800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:97927600-97928200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:97927600-97928400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:97927600-97928800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:97927600-97928800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:97927800-97928200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:97928200-97928400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:97928200-97932200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:97928200-97936800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:97928400-97932200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:97928800-97931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:97928800-97934000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:97930000-97932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:97931000-97932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:97931800-97932000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:97932000-97932200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr3:97932000-97932200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:97932000-97932800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:97932200-97932600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr3:97932200-97932600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr3:97932200-97932600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr3:97932200-97932600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:97932200-97932800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:97932600-97932800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:97932600-97932800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:97932600-97933800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:97932800-97933600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:97932800-97933800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:97932800-97936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:97933800-97934000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:97933800-97934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:97933800-97938000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:97934000-97934400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:97936200-97936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:97936800-97937600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:97936800-97937800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:97937600-97938000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:97937800-97942400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:97938000-97938200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:97942400-97943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:97943400-97944000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:97944000-97944200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:97945200-97945600	Active TSS	Esophagus	oesophagus
48	chr3:97951200-97952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:97951400-97952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:97951600-97952800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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