Variant report

Variant	esv2829916
Chromosome Location	chr9:105764116-105800243
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	BACH1	chr9:105800139-105800480	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:105776565-105777146	IMR90	lung:	n/a	chr9:105776765-105776776 chr9:105776716-105776727
3	CEBPB	chr9:105776566-105776875	H1-hESC	embryonic stem cell:	n/a	chr9:105776765-105776776 chr9:105776716-105776727
4	CEBPB	chr9:105766014-105766333	K562	blood:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
5	CEBPB	chr9:105776489-105777185	K562	blood:	n/a	chr9:105776765-105776776 chr9:105776716-105776727
6	CEBPB	chr9:105776625-105777150	A549	lung:	n/a	chr9:105776765-105776776 chr9:105776716-105776727
7	CEBPB	chr9:105765984-105766352	IMR90	lung:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
8	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
9	CEBPB	chr9:105765986-105766361	HepG2	liver:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
10	CEBPB	chr9:105776563-105777159	HepG2	liver:	n/a	chr9:105776765-105776776 chr9:105776716-105776727
11	CEBPB	chr9:105765985-105766350	A549	lung:	n/a	chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766167-105766176 chr9:105766165-105766176 chr9:105766165-105766178
12	CTCF	chr9:105770040-105770190	GM12867	blood:	n/a	n/a
13	CTCF	chr9:105776881-105776940	LNCaP	prostate:	n/a	n/a
14	CTCF	chr9:105776918-105776999	Spleen_OC	spleen:	n/a	n/a
15	EP300	chr9:105776659-105776798	HepG2	liver:	n/a	n/a
16	FOS	chr9:105800093-105800440	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr9:105800100-105800441	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:105799269-105799590	MCF10A-Er-Src	breast:	n/a	chr9:105799419-105799426 chr9:105799417-105799426
19	FOS	chr9:105766118-105766160	MCF10A-Er-Src	breast:	n/a	chr9:105766140-105766151
20	FOS	chr9:105766110-105766203	MCF10A-Er-Src	breast:	n/a	chr9:105766140-105766151
21	FOS	chr9:105800081-105800447	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:105800112-105800493	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:105799310-105799574	MCF10A-Er-Src	breast:	n/a	chr9:105799419-105799426 chr9:105799417-105799426
24	GATA3	chr9:105783112-105783217	SH-SY5Y	brain:	n/a	chr9:105783161-105783169 chr9:105783134-105783150 chr9:105783136-105783143 chr9:105783136-105783148
25	KAP1	chr9:105781962-105782397	K562	blood:	n/a	n/a
26	MAFF	chr9:105781973-105782173	HepG2	liver:	n/a	chr9:105782048-105782066
27	MAFK	chr9:105800117-105800331	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr9:105781991-105782051	HepG2	liver:	n/a	n/a
29	MYC	chr9:105800243-105800353	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr9:105800128-105800385	MCF10A-Er-Src	breast:	n/a	n/a
31	NFYB	chr9:105795565-105795621	GM12878	blood:	n/a	n/a
32	NRF1	chr9:105789851-105789871	GM12878	blood:	n/a	n/a
33	POLR2A	chr9:105785098-105785298	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr9:105790314-105790350	Gliobla	brain:	n/a	n/a
35	POLR2A	chr9:105778944-105778959	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr9:105782896-105783031	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr9:105769956-105770106	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:105767444-105767644	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr9:105790370-105790387	Gliobla	brain:	n/a	n/a
40	POLR2A	chr9:105785578-105785641	MCF10A-Er-Src	breast:	n/a	n/a
41	RFX5	chr9:105776662-105776776	K562	blood:	n/a	n/a
42	SIN3A	chr9:105780615-105780653	H1-hESC	embryonic stem cell:	n/a	n/a
43	STAT3	chr9:105771829-105771845	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr9:105771204-105771247	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr9:105765807-105766154	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr9:105800073-105800459	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr9:105800099-105800459	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr9:105800115-105800431	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr9:105799903-105800748	MCF10A-Er-Src	breast:	n/a	n/a
50	USF2	chr9:105777317-105777517	Hela-S3	cervix:	n/a	chr9:105777401-105777412 chr9:105777376-105777387

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:105764606-105764656	GM12892	blood:	n/a
2	chr9:105764606-105764656	HAEpiC	amniotic membrane:	n/a
3	chr9:105764606-105764656	HepG2	liver:	n/a
4	chr9:105764606-105764656	Hepatocyte	liver:	n/a
5	chr9:105764606-105764656	K562	blood:	n/a
6	chr9:105764606-105764656	AoSMC	blood vessel:	n/a
7	chr9:105764606-105764656	GM12878	blood:	n/a
8	chr9:105764606-105764656	H1-hESC	embryonic stem cell:	embryo
9	chr9:105764606-105764656	SK-N-MC	brain:	n/a
10	chr9:105764606-105764656	CMK	blood:	n/a
11	chr9:105764606-105764656	HRPEpiC	eye:	n/a
12	chr9:105764606-105764656	NB4	blood:	n/a
13	chr9:105764606-105764656	PrEC	prostate:	n/a
14	chr9:105764606-105764656	MCF10A-Er-Src	breast:	n/a
15	chr9:105764606-105764656	HRCEpiC	kidney:	n/a
16	chr9:105764606-105764656	GM06990	blood:	n/a
17	chr9:105764606-105764656	PFSK-1	brain:	n/a
18	chr9:105764606-105764656	HPAEpiC	pulmonary alveolar:	n/a
19	chr9:105764606-105764656	GM12891	blood:	n/a
20	chr9:105764606-105764656	NHDF-neo	bronchial:	n/a
21	chr9:105764606-105764656	PANC-1	pancreas:	n/a
22	chr9:105764606-105764656	AG09319	gingival:	n/a
23	chr9:105764606-105764656	AG04449	skin:	fetal
24	chr9:105764606-105764656	HEEpiC	esophagus:	n/a
25	chr9:105764606-105764656	ovcar-3	ovarian:	n/a
26	chr9:105764606-105764656	NH-A	brain:	n/a
27	chr9:105764606-105764656	A549	lung:	n/a
28	chr9:105764606-105764656	HUVEC	blood vessel:	n/a
29	chr9:105764606-105764656	SK-N-SH_RA	brain:	n/a
30	chr9:105764606-105764656	HCF	heart:	n/a
31	chr9:105764606-105764656	NT2-D1	testis:	n/a
32	chr9:105764606-105764656	LNCaP	prostate:	n/a
33	chr9:105764606-105764656	U87	brain:	n/a
34	chr9:105764606-105764656	ProgFib	skin:	n/a
35	chr9:105764606-105764656	HIPEpiC	eye:	n/a
36	chr9:105764606-105764656	Jurkat	blood:	n/a
37	chr9:105764606-105764656	GM19239	blood:	n/a
38	chr9:105764606-105764656	Caco-2	colon:	n/a
39	chr9:105764606-105764656	MCF-7	breast:	n/a
40	chr9:105764606-105764656	BJ	skin:	n/a
41	chr9:105764606-105764656	HL-60	blood:	n/a
42	chr9:105764606-105764656	HCPEpiC	choroid plexus:	n/a
43	chr9:105764606-105764656	HNPCEpiC	eye:	n/a
44	chr9:105764606-105764656	ECC-1	luminal epithelium:	n/a
45	chr9:105764606-105764656	AG10803	skin:	n/a
46	chr9:105764606-105764656	AG09309	skin:	n/a
47	chr9:105764606-105764656	SK-N-SH	brain:	n/a
48	chr9:105764606-105764656	HRE	kidney:	n/a
49	chr9:105764606-105764656	Hela-S3	cervix:	n/a
50	chr9:105764606-105764656	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:28772851..28773583-chr9:105771894..105772469,2	MCF-7	breast:
2	chr9:105776596..105779117-chr9:105802439..105805135,2	MCF-7	breast:
3	chr10:16933551..16934193-chr9:105772591..105773111,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYLC2-2	chr9:105780607-105780770	NONHSAT133770
2	lnc-CYLC2-2	chr9:105774341-105774379	NONHSAT133770

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: 68 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16922390	chr9:105768172-105768173	Inactive region	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539659993	chr9:105769996-105769997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs947187	chr9:105770038-105770039	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139746330	chr9:105770062-105770063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs16922403	chr9:105770068-105770069	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184591698	chr9:105770069-105770070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575228673	chr9:105770072-105770073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558608972	chr9:105770073-105770074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188512988	chr9:105770124-105770125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557449459	chr9:105770135-105770136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143024686	chr9:105770140-105770141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs181282705	chr9:105770156-105770157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs947186	chr9:105770158-105770159	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573453457	chr9:105770163-105770164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185911033	chr9:105771207-105771208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562556562	chr9:105771230-105771231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567862373	chr9:105774353-105774354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs77031137	chr9:105780607-105780608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs117142631	chr9:105780616-105780617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs13291989	chr9:105780618-105780619	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs116397477	chr9:105780635-105780636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs182596440	chr9:105780647-105780648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs533114905	chr9:105780656-105780657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs186720241	chr9:105780670-105780671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370930452	chr9:105780686-105780687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs566370432	chr9:105780698-105780699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs142981694	chr9:105780712-105780713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530518329	chr9:105780717-105780718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs548687660	chr9:105780721-105780722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs568276540	chr9:105780731-105780732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs10820341	chr9:105780762-105780763	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557319777	chr9:105780768-105780769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs73659660	chr9:105799422-105799423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77419293	chr9:105799445-105799446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113013697	chr9:105799457-105799458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114760811	chr9:105799463-105799464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544933197	chr9:105799502-105799503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564279830	chr9:105799511-105799512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550688593	chr9:105799513-105799514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189309225	chr9:105799565-105799566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546709926	chr9:105799571-105799572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76661903	chr9:105799573-105799574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536285182	chr9:105799602-105799603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539115338	chr9:105799605-105799606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182291109	chr9:105799614-105799615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187068993	chr9:105799657-105799658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1341208	chr9:105799664-105799665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566115109	chr9:105799676-105799677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190944262	chr9:105799767-105799768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571492916	chr9:105799901-105799902	Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105799400-105800600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:105799400-105800600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:105799600-105800600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr9:105799600-105800600	Enhancers	Left Ventricle	heart
5	chr9:105799800-105800800	Enhancers	Right Ventricle	heart
6	chr9:105799800-105801200	Enhancers	Fetal Heart	heart
7	chr9:105799800-105801400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:105800000-105800400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:105800000-105800600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:105800000-105800800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:105800000-105800800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:105800200-105800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:105800200-105800400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:105800200-105800600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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