Variant report

Variant	nsv1051679
Chromosome Location	chr9:105714019-105774107
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	CBX3	chr9:105732789-105732939	K562	blood:	n/a	n/a
2	CEBPB	chr9:105765984-105766352	IMR90	lung:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
3	CEBPB	chr9:105715318-105715459	A549	lung:	n/a	n/a
4	CEBPB	chr9:105763617-105763909	HepG2	liver:	n/a	chr9:105763745-105763756 chr9:105763746-105763757 chr9:105763745-105763758
5	CEBPB	chr9:105763606-105763848	A549	lung:	n/a	chr9:105763745-105763756 chr9:105763746-105763757 chr9:105763745-105763758
6	CEBPB	chr9:105763696-105763838	K562	blood:	n/a	chr9:105763745-105763756 chr9:105763746-105763757 chr9:105763745-105763758
7	CEBPB	chr9:105716482-105716594	H1-hESC	embryonic stem cell:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
8	CEBPB	chr9:105716400-105716709	HepG2	liver:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
9	CEBPB	chr9:105765985-105766350	A549	lung:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
10	CEBPB	chr9:105765994-105766337	H1-hESC	embryonic stem cell:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
11	CEBPB	chr9:105765986-105766361	HepG2	liver:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
12	CEBPB	chr9:105766014-105766333	K562	blood:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
13	CTCF	chr9:105770040-105770190	GM12867	blood:	n/a	n/a
14	CTCF	chr9:105747084-105747155	GM13976	blood:	n/a	n/a
15	CTCF	chr9:105754978-105755001	GM13977	blood:	n/a	n/a
16	CTCF	chr9:105717599-105717636	Lung_OC	lung:	n/a	n/a
17	CTCF	chr9:105729953-105729968	GM20000	blood:	n/a	n/a
18	E2F4	chr9:105725027-105725227	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr9:105744253-105744566	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr9:105752889-105753300	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr9:105749194-105749374	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr9:105748472-105748633	MCF10A-Er-Src	breast:	n/a	n/a
23	ESR1	chr9:105747697-105748193	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr9:105747764-105748093	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr9:105747816-105748084	ECC-1	luminal epithelium:	n/a	n/a
26	ESR1	chr9:105747761-105748124	ECC-1	luminal epithelium:	n/a	n/a
27	FOS	chr9:105736811-105737195	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr9:105736410-105737308	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr9:105724986-105725182	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
30	FOS	chr9:105736821-105737182	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr9:105744161-105744663	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr9:105736573-105737183	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr9:105744359-105744579	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr9:105716383-105716635	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr9:105744233-105744638	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr9:105744172-105744657	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr9:105766110-105766203	MCF10A-Er-Src	breast:	n/a	chr9:105766140-105766151
38	FOS	chr9:105766118-105766160	MCF10A-Er-Src	breast:	n/a	chr9:105766140-105766151
39	FOS	chr9:105724958-105725141	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
40	FOS	chr9:105724925-105725132	MCF10A-Er-Src	breast:	n/a	chr9:105725041-105725052 chr9:105725045-105725053 chr9:105725046-105725053
41	FOSL2	chr9:105736773-105737181	MCF-7	breast:	n/a	n/a
42	FOSL2	chr9:105736908-105737052	A549	lung:	n/a	n/a
43	GATA3	chr9:105761031-105761219	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr9:105736748-105737282	MCF-7	breast:	n/a	n/a
45	GATA3	chr9:105724906-105725089	SH-SY5Y	brain:	n/a	n/a
46	JUN	chr9:105736889-105737033	HepG2	liver:	n/a	n/a
47	JUND	chr9:105736736-105737299	MCF-7	breast:	n/a	chr9:105736998-105737009
48	JUND	chr9:105736989-105737012	K562	blood:	n/a	chr9:105736998-105737009
49	JUND	chr9:105754376-105754643	HepG2	liver:	n/a	n/a
50	JUND	chr9:105736848-105737171	HepG2	liver:	n/a	chr9:105736998-105737009

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:105764606-105764656	HRE	kidney:	n/a
2	chr9:105764606-105764656	HPAEpiC	pulmonary alveolar:	n/a
3	chr9:105764606-105764656	HMEC	breast:	n/a
4	chr9:105764606-105764656	HRCEpiC	kidney:	n/a
5	chr9:105764606-105764656	U87	brain:	n/a
6	chr9:105764606-105764656	Hela-S3	cervix:	n/a
7	chr9:105764606-105764656	PrEC	prostate:	n/a
8	chr9:105764606-105764656	K562	blood:	n/a
9	chr9:105764606-105764656	AG04450	lung:	fetal
10	chr9:105764606-105764656	MCF-7	breast:	n/a
11	chr9:105764606-105764656	HCM	heart:	n/a
12	chr9:105764606-105764656	AG09309	skin:	n/a
13	chr9:105764606-105764656	HRPEpiC	eye:	n/a
14	chr9:105764606-105764656	HNPCEpiC	eye:	n/a
15	chr9:105764606-105764656	SKMC	muscle:	n/a
16	chr9:105764606-105764656	A549	lung:	n/a
17	chr9:105764606-105764656	T-47D	breast:	n/a
18	chr9:105764606-105764656	H1-hESC	embryonic stem cell:	embryo
19	chr9:105764606-105764656	MCF10A-Er-Src	breast:	n/a
20	chr9:105764606-105764656	Jurkat	blood:	n/a
21	chr9:105764606-105764656	SAEC	small airway:	n/a
22	chr9:105764606-105764656	HCT-116	colon:	n/a
23	chr9:105764606-105764656	AG09319	gingival:	n/a
24	chr9:105764606-105764656	RPTEC	kidney:	n/a
25	chr9:105764606-105764656	SK-N-MC	brain:	n/a
26	chr9:105764606-105764656	ovcar-3	ovarian:	n/a
27	chr9:105764606-105764656	SK-N-SH	brain:	n/a
28	chr9:105764606-105764656	HAEpiC	amniotic membrane:	n/a
29	chr9:105764606-105764656	Caco-2	colon:	n/a
30	chr9:105764606-105764656	NB4	blood:	n/a
31	chr9:105764606-105764656	NH-A	brain:	n/a
32	chr9:105764606-105764656	GM12878	blood:	n/a
33	chr9:105764606-105764656	AG04449	skin:	fetal
34	chr9:105764606-105764656	AG10803	skin:	n/a
35	chr9:105764606-105764656	HEK293	kidney:	embryo
36	chr9:105764606-105764656	ProgFib	skin:	n/a
37	chr9:105764606-105764656	AoSMC	blood vessel:	n/a
38	chr9:105764606-105764656	NHBE	bronchial:	n/a
39	chr9:105764606-105764656	Hepatocyte	liver:	n/a
40	chr9:105764606-105764656	GM19239	blood:	n/a
41	chr9:105764606-105764656	HepG2	liver:	n/a
42	chr9:105764606-105764656	PFSK-1	brain:	n/a
43	chr9:105764606-105764656	IMR90	lung:	fetal
44	chr9:105764606-105764656	HUVEC	blood vessel:	n/a
45	chr9:105764606-105764656	GM12892	blood:	n/a
46	chr9:105764606-105764656	CMK	blood:	n/a
47	chr9:105764606-105764656	GM12891	blood:	n/a
48	chr9:105764606-105764656	ECC-1	luminal epithelium:	n/a
49	chr9:105764606-105764656	LNCaP	prostate:	n/a
50	chr9:105764606-105764656	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:16933551..16934193-chr9:105772591..105773111,2	HCT-116	colon:
2	chr3:28772851..28773583-chr9:105771894..105772469,2	MCF-7	breast:
3	chr9:105754455..105757293-chr9:105759259..105760916,2	K562	blood:
4	chr9:105754455..105757293-chr9:105759259..105760916,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYLC2	hsa-miR-26b-5p	chr9:105768164-105768186

Variant related genes	Relation type
CYLC2	TF binding region
CYLC2	CpG island

Extended variants
information (count: 162 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7859859	chr9:105747570-105747571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147796474	chr9:105747619-105747620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78350186	chr9:105747625-105747626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533970942	chr9:105747655-105747656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117257851	chr9:105747685-105747686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187889375	chr9:105747783-105747784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148886440	chr9:105747797-105747798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544269775	chr9:105747839-105747840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77403962	chr9:105747861-105747862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571907937	chr9:105747901-105747902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531752358	chr9:105747932-105747933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148066906	chr9:105747954-105747955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140866064	chr9:105747957-105747958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145643682	chr9:105747958-105747959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556146964	chr9:105747963-105747964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376479632	chr9:105748028-105748029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76446704	chr9:105748114-105748115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538583068	chr9:105748167-105748168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138172554	chr9:105748178-105748179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571959566	chr9:105748181-105748182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549052268	chr9:105748183-105748184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10760930	chr9:105748184-105748185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142762768	chr9:105748188-105748189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371929777	chr9:105748198-105748199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574099358	chr9:105748200-105748201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145078024	chr9:105748214-105748215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10739860	chr9:105748222-105748223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531725530	chr9:105748287-105748288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193090085	chr9:105748311-105748312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369329645	chr9:105748328-105748329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527948153	chr9:105748378-105748379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7874072	chr9:105748396-105748397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564305579	chr9:105748415-105748416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1592242	chr9:105748480-105748481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529825335	chr9:105748504-105748505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376696988	chr9:105748505-105748506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550225914	chr9:105748508-105748509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569351802	chr9:105748533-105748534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538247052	chr9:105748564-105748565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568493784	chr9:105748567-105748568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558086830	chr9:105748589-105748590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185065028	chr9:105748602-105748603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565649294	chr9:105748627-105748628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534581970	chr9:105748631-105748632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529276524	chr9:105748661-105748662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554775331	chr9:105748671-105748672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574528991	chr9:105748686-105748687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149411252	chr9:105748687-105748688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556689345	chr9:105748732-105748733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116145477	chr9:105748747-105748748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105747400-105748000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:105747400-105749200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:105747600-105747800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:105747800-105748600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr9:105747800-105748800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:105747800-105749200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:105748000-105748200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:105748400-105749200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr9:105748400-105749200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:105748600-105749200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:105748600-105749200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:105748800-105749000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:105748800-105749400	Enhancers	HUES48 Cell Line	embryonic stem cell

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