Variant report

Variant	esv2751032
Chromosome Location	chr11:55276602-55355722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55312931-55313225	HepG2	liver:	n/a	chr11:55313093-55313104
2	CEBPB	chr11:55290616-55290841	HepG2	liver:	n/a	chr11:55290662-55290673
3	CTCF	chr11:55302167-55302267	GM10248	blood:	n/a	n/a
4	CTCF	chr11:55295940-55296090	HCPEpiC	choroid plexus:	n/a	n/a
5	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
6	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
8	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
9	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
10	FOXA1	chr11:55288073-55288409	HepG2	liver:	n/a	n/a
11	FOXA2	chr11:55288090-55288346	A549	lung:	n/a	n/a
12	FOXA2	chr11:55288064-55288378	A549	lung:	n/a	n/a
13	FOXA2	chr11:55344991-55345423	A549	lung:	n/a	n/a
14	IRF1	chr11:55318160-55318216	K562	blood:	n/a	n/a
15	JUN	chr11:55338964-55339079	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUN	chr11:55331477-55331723	HepG2	liver:	n/a	chr11:55331585-55331598 chr11:55331514-55331525
17	JUND	chr11:55312965-55313205	HepG2	liver:	n/a	n/a
18	JUND	chr11:55331518-55331748	HepG2	liver:	n/a	n/a
19	JUND	chr11:55320480-55320674	HepG2	liver:	n/a	chr11:55320597-55320609 chr11:55320599-55320607 chr11:55320599-55320606 chr11:55320598-55320608 chr11:55320598-55320607 chr11:55320597-55320608
20	KAP1	chr11:55341552-55341915	K562	blood:	n/a	n/a
21	MAFF	chr11:55307442-55307718	HepG2	liver:	n/a	chr11:55307556-55307574
22	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
23	MAFF	chr11:55279356-55279534	HepG2	liver:	n/a	chr11:55279422-55279440
24	MAFF	chr11:55307472-55307695	K562	blood:	n/a	chr11:55307556-55307574
25	MAFK	chr11:55307430-55307733	HepG2	liver:	n/a	chr11:55307558-55307573
26	MAFK	chr11:55279302-55279580	HepG2	liver:	n/a	n/a
27	MAFK	chr11:55307421-55307678	K562	blood:	n/a	chr11:55307558-55307573
28	MAFK	chr11:55302931-55303044	HepG2	liver:	n/a	n/a
29	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a
30	MAFK	chr11:55278038-55278087	HepG2	liver:	n/a	n/a
31	MAFK	chr11:55307429-55307737	IMR90	lung:	n/a	chr11:55307558-55307573
32	MAFK	chr11:55307398-55307747	HepG2	liver:	n/a	chr11:55307558-55307573
33	MYC	chr11:55339299-55339416	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
35	NFYA	chr11:55320696-55320879	GM12878	blood:	n/a	n/a
36	PBX3	chr11:55340025-55340197	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:55323909-55323971	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:55295558-55295700	ProgFib	skin:	n/a	n/a
39	POLR2A	chr11:55277201-55277289	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:55316422-55316446	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:55279728-55279849	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:55355260-55355431	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:55319961-55320114	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:55336385-55336405	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:55303017-55303113	MCF10A-Er-Src	breast:	n/a	n/a
46	RFX5	chr11:55279803-55279807	K562	blood:	n/a	n/a
47	SPI1	chr11:55329256-55329405	K562	blood:	n/a	n/a
48	SPI1	chr11:55354821-55355189	HL-60	blood:	n/a	n/a
49	SPI1	chr11:55329242-55329410	K562	blood:	n/a	n/a
50	SPI1	chr11:55295536-55295992	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55322753-55322803	T-47D	breast:	n/a
2	chr11:55338135-55338185	BE2_C	brain:	n/a
3	chr11:55321480-55321530	HCPEpiC	choroid plexus:	n/a
4	chr11:55322753-55322803	HMEC	breast:	n/a
5	chr11:55322753-55322803	ovcar-3	ovarian:	n/a
6	chr11:55339961-55340011	ovcar-3	ovarian:	n/a
7	chr11:55338135-55338185	HCF	heart:	n/a
8	chr11:55322753-55322803	SKMC	muscle:	n/a
9	chr11:55322753-55322803	HUVEC	blood vessel:	n/a
10	chr11:55338135-55338185	A549	lung:	n/a
11	chr11:55322753-55322803	HEK293	kidney:	embryo
12	chr11:55321480-55321530	PrEC	prostate:	n/a
13	chr11:55339961-55340011	AoSMC	blood vessel:	n/a
14	chr11:55339961-55340011	RPTEC	kidney:	n/a
15	chr11:55338135-55338185	GM19239	blood:	n/a
16	chr11:55321480-55321530	LNCaP	prostate:	n/a
17	chr11:55321480-55321530	HepG2	liver:	n/a
18	chr11:55339961-55340011	PrEC	prostate:	n/a
19	chr11:55339961-55340011	ECC-1	luminal epithelium:	n/a
20	chr11:55321480-55321530	HCM	heart:	n/a
21	chr11:55339961-55340011	HCT-116	colon:	n/a
22	chr11:55339961-55340011	PFSK-1	brain:	n/a
23	chr11:55322753-55322803	SAEC	small airway:	n/a
24	chr11:55322753-55322803	BJ	skin:	n/a
25	chr11:55321480-55321530	Jurkat	blood:	n/a
26	chr11:55339961-55340011	AG09309	skin:	n/a
27	chr11:55338135-55338185	HCM	heart:	n/a
28	chr11:55322753-55322803	AG09309	skin:	n/a
29	chr11:55338135-55338185	HMEC	breast:	n/a
30	chr11:55322753-55322803	K562	blood:	n/a
31	chr11:55322753-55322803	NH-A	brain:	n/a
32	chr11:55338135-55338185	MCF10A-Er-Src	breast:	n/a
33	chr11:55339961-55340011	HIPEpiC	eye:	n/a
34	chr11:55321480-55321530	HCF	heart:	n/a
35	chr11:55338135-55338185	HEK293	kidney:	embryo
36	chr11:55338135-55338185	Caco-2	colon:	n/a
37	chr11:55321480-55321530	T-47D	breast:	n/a
38	chr11:55322753-55322803	SK-N-SH	brain:	n/a
39	chr11:55338135-55338185	NB4	blood:	n/a
40	chr11:55321480-55321530	NB4	blood:	n/a
41	chr11:55339961-55340011	HCM	heart:	n/a
42	chr11:55339961-55340011	SKMC	muscle:	n/a
43	chr11:55322753-55322803	NHDF-neo	bronchial:	n/a
44	chr11:55321480-55321530	HMEC	breast:	n/a
45	chr11:55321480-55321530	NH-A	brain:	n/a
46	chr11:55321480-55321530	AoSMC	blood vessel:	n/a
47	chr11:55339961-55340011	HUVEC	blood vessel:	n/a
48	chr11:55322753-55322803	HL-60	blood:	n/a
49	chr11:55339961-55340011	PANC-1	pancreas:	n/a
50	chr11:55339961-55340011	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
OR4C1P	TF binding region
OR4C16	TF binding region
OR4C15	TF binding region
OR4C14P	TF binding region
OR4C1P	CpG island
OR4C16	CpG island
OR4C15	CpG island
OR4C14P	CpG island

Extended variants
information (count: 540 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9666744	chr11:55276602-55276603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116763560	chr11:55276605-55276606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547990540	chr11:55276643-55276644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565911375	chr11:55276650-55276651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553657155	chr11:55276657-55276658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151117606	chr11:55276658-55276659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182120441	chr11:55276730-55276731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566978149	chr11:55276733-55276734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111901407	chr11:55276761-55276762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555853264	chr11:55276773-55276774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140052093	chr11:55276810-55276811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374321792	chr11:55276819-55276820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188017864	chr11:55276822-55276823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370753293	chr11:55276840-55276841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553967618	chr11:55276846-55276847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55770365	chr11:55276880-55276881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs525337	chr11:55276903-55276904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116054469	chr11:55276906-55276907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374410517	chr11:55276927-55276928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576561959	chr11:55276932-55276933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112638210	chr11:55276960-55276961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113383557	chr11:55276977-55276978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532865781	chr11:55276979-55276980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539340236	chr11:55276991-55276992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193089369	chr11:55276997-55276998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559568375	chr11:55277009-55277010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530237581	chr11:55277017-55277018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548337525	chr11:55277046-55277047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74687777	chr11:55277055-55277056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184157826	chr11:55277098-55277099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375784072	chr11:55277105-55277106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188305673	chr11:55277128-55277129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117977810	chr11:55277136-55277137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538962994	chr11:55277168-55277169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75652332	chr11:55277252-55277253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554103444	chr11:55277261-55277262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368250019	chr11:55277311-55277312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191979506	chr11:55277367-55277368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554768178	chr11:55277379-55277380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576499650	chr11:55277380-55277381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575570942	chr11:55277402-55277403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558943312	chr11:55277406-55277407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs577168282	chr11:55277418-55277419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541370454	chr11:55277440-55277441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530297958	chr11:55277442-55277443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184357224	chr11:55277452-55277453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78391427	chr11:55277457-55277458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544410246	chr11:55277459-55277460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs549602489	chr11:55277473-55277474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371785313	chr11:55277478-55277479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea
2	chr11:55277400-55277800	ZNF genes & repeats	Pancreas	Pancrea
3	chr11:55277400-55278000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:55282000-55282400	Active TSS	Fetal Heart	heart
5	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
10	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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