Variant report

Variant	nsv1048237
Chromosome Location	chr11:55312533-55363328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

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	CUX1	chr11:55341693-55341783	K562	blood:	n/a	n/a
3	E2F4	chr11:55351881-55352060	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr11:55340046-55340412	GM12878	blood:	n/a	n/a
5	EP300	chr11:55340128-55340480	GM12878	blood:	n/a	n/a
6	FAM48A	chr11:55339310-55339405	GM12878	blood:	n/a	n/a
7	FOS	chr11:55361862-55361964	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr11:55344991-55345423	A549	lung:	n/a	n/a
9	IRF1	chr11:55318160-55318216	K562	blood:	n/a	n/a
10	JUN	chr11:55338964-55339079	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUN	chr11:55331477-55331723	HepG2	liver:	n/a	chr11:55331585-55331598 chr11:55331514-55331525
12	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
13	JUND	chr11:55331518-55331748	HepG2	liver:	n/a	n/a
14	JUND	chr11:55361729-55362027	HepG2	liver:	n/a	chr11:55361891-55361902
15	JUND	chr11:55312965-55313205	HepG2	liver:	n/a	n/a
16	KAP1	chr11:55341552-55341915	K562	blood:	n/a	n/a
17	MAFF	chr11:55337936-55337977	HepG2	liver:	n/a	chr11:55337957-55337975
18	MAFK	chr11:55337914-55337972	HepG2	liver:	n/a	n/a
19	MYC	chr11:55339299-55339416	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr11:55354894-55354903	NB4	blood:	n/a	n/a
21	NFYA	chr11:55320696-55320879	GM12878	blood:	n/a	n/a
22	PBX3	chr11:55340025-55340197	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:55357030-55357095	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:55336385-55336405	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:55358291-55358471	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:55316422-55316446	Gliobla	brain:	n/a	n/a
27	POLR2A	chr11:55323909-55323971	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:55355260-55355431	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:55319961-55320114	MCF10A-Er-Src	breast:	n/a	n/a
30	SPI1	chr11:55329256-55329405	K562	blood:	n/a	n/a
31	SPI1	chr11:55329242-55329410	K562	blood:	n/a	n/a
32	SPI1	chr11:55354821-55355189	HL-60	blood:	n/a	n/a
33	STAT3	chr11:55354055-55354255	MCF10A-Er-Src	breast:	n/a	n/a
34	ZNF143	chr11:55343466-55343733	H1-hESC	embryonic stem cell:	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	chr11:55339961-55340011	AG10803	skin:	n/a
2	chr11:55338135-55338185	SAEC	small airway:	n/a
3	chr11:55321480-55321530	HUVEC	blood vessel:	n/a
4	chr11:55338135-55338185	HMEC	breast:	n/a
5	chr11:55322753-55322803	AG04449	skin:	fetal
6	chr11:55339961-55340011	SKMC	muscle:	n/a
7	chr11:55321480-55321530	HAEpiC	amniotic membrane:	n/a
8	chr11:55321480-55321530	CMK	blood:	n/a
9	chr11:55321480-55321530	H1-hESC	embryonic stem cell:	embryo
10	chr11:55321480-55321530	SKMC	muscle:	n/a
11	chr11:55321480-55321530	GM12878	blood:	n/a
12	chr11:55322753-55322803	NHDF-neo	bronchial:	n/a
13	chr11:55321480-55321530	MCF10A-Er-Src	breast:	n/a
14	chr11:55338135-55338185	HEK293	kidney:	embryo
15	chr11:55322753-55322803	RPTEC	kidney:	n/a
16	chr11:55339961-55340011	SK-N-SH_RA	brain:	n/a
17	chr11:55338135-55338185	AG09309	skin:	n/a
18	chr11:55322753-55322803	MCF-7	breast:	n/a
19	chr11:55339961-55340011	HL-60	blood:	n/a
20	chr11:55338135-55338185	IMR90	lung:	fetal
21	chr11:55322753-55322803	MCF10A-Er-Src	breast:	n/a
22	chr11:55338135-55338185	PrEC	prostate:	n/a
23	chr11:55338135-55338185	GM12878	blood:	n/a
24	chr11:55321480-55321530	AG04450	lung:	fetal
25	chr11:55338135-55338185	PFSK-1	brain:	n/a
26	chr11:55322753-55322803	GM12878	blood:	n/a
27	chr11:55322753-55322803	GM12892	blood:	n/a
28	chr11:55321480-55321530	HRCEpiC	kidney:	n/a
29	chr11:55321480-55321530	SK-N-SH	brain:	n/a
30	chr11:55338135-55338185	HCPEpiC	choroid plexus:	n/a
31	chr11:55339961-55340011	Jurkat	blood:	n/a
32	chr11:55338135-55338185	HRCEpiC	kidney:	n/a
33	chr11:55321480-55321530	PFSK-1	brain:	n/a
34	chr11:55338135-55338185	Hela-S3	cervix:	n/a
35	chr11:55339961-55340011	SAEC	small airway:	n/a
36	chr11:55339961-55340011	MCF-7	breast:	n/a
37	chr11:55338135-55338185	NB4	blood:	n/a
38	chr11:55321480-55321530	NT2-D1	testis:	n/a
39	chr11:55321480-55321530	HCF	heart:	n/a
40	chr11:55338135-55338185	HIPEpiC	eye:	n/a
41	chr11:55321480-55321530	HEEpiC	esophagus:	n/a
42	chr11:55322753-55322803	GM19239	blood:	n/a
43	chr11:55321480-55321530	Hepatocyte	liver:	n/a
44	chr11:55339961-55340011	GM12891	blood:	n/a
45	chr11:55321480-55321530	HL-60	blood:	n/a
46	chr11:55338135-55338185	AoSMC	blood vessel:	n/a
47	chr11:55338135-55338185	HCF	heart:	n/a
48	chr11:55322753-55322803	Hela-S3	cervix:	n/a
49	chr11:55339961-55340011	HNPCEpiC	eye:	n/a
50	chr11:55322753-55322803	ProgFib	skin:	n/a

No data

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

Extended variants
information (count: 384 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459104	chr11:55312533-55312534	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17580966	chr11:55312550-55312551	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs371369403	chr11:55312559-55312560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146291094	chr11:55312603-55312604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61917939	chr11:55312619-55312620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564659673	chr11:55312633-55312634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528464376	chr11:55312680-55312681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs504661	chr11:55312683-55312684	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs193022184	chr11:55312697-55312698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111505602	chr11:55312700-55312701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139520699	chr11:55312786-55312787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569506448	chr11:55312794-55312795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536881223	chr11:55312808-55312809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565856746	chr11:55312826-55312827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77792938	chr11:55312829-55312830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570678797	chr11:55312833-55312834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534580401	chr11:55312837-55312838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552700607	chr11:55312852-55312853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144264220	chr11:55312892-55312893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs17580994	chr11:55312897-55312898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78301054	chr11:55312925-55312926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs575889030	chr11:55312926-55312927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185199032	chr11:55312937-55312938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs150645113	chr11:55312948-55312949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372991762	chr11:55312963-55312964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535859901	chr11:55312987-55312988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528798356	chr11:55312990-55312991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186967305	chr11:55313015-55313016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561745098	chr11:55313021-55313022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376134577	chr11:55313052-55313053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs554920856	chr11:55313073-55313074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs74442722	chr11:55313079-55313080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569039405	chr11:55313105-55313106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs530706105	chr11:55313118-55313119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545010644	chr11:55313125-55313126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552105675	chr11:55313141-55313142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369158374	chr11:55313151-55313152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564900782	chr11:55313153-55313154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534613691	chr11:55313156-55313157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139865743	chr11:55313161-55313162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191860033	chr11:55313181-55313182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535478967	chr11:55313215-55313216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557073106	chr11:55313232-55313233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183543399	chr11:55313261-55313262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539989111	chr11:55313284-55313285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544326064	chr11:55313288-55313289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149832393	chr11:55313296-55313297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188287050	chr11:55313298-55313299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11230101	chr11:55313350-55313351	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561212143	chr11:55313369-55313370	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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
6	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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