Variant report

Variant	nsv523453
Chromosome Location	chr11:56324576-56366677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:56362076-56362101	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:56332491-56332492	A549	lung:	n/a	n/a
3	CTCF	chr11:56344756-56344763	GM20000	blood:	n/a	n/a
4	CTCF	chr11:56349510-56349580	Fibrobl	skin:	n/a	n/a
5	CTCF	chr11:56362545-56362566	Lung_OC	lung:	n/a	n/a
6	CTCF	chr11:56344700-56344747	GM20000	blood:	n/a	n/a
7	EP300	chr11:56351599-56351679	K562	blood:	n/a	n/a
8	FOXA2	chr11:56359462-56360029	A549	lung:	n/a	n/a
9	FOXA2	chr11:56359507-56359790	A549	lung:	n/a	n/a
10	IRF1	chr11:56364692-56364778	K562	blood:	n/a	chr11:56364708-56364722 chr11:56364704-56364718 chr11:56364707-56364720 chr11:56364708-56364718 chr11:56364706-56364726 chr11:56364702-56364719 chr11:56364707-56364720 chr11:56364707-56364721 chr11:56364707-56364720 chr11:56364706-56364717 chr11:56364707-56364718
11	IRF1	chr11:56335277-56335338	K562	blood:	n/a	n/a
12	JUND	chr11:56347234-56347550	HepG2	liver:	n/a	chr11:56347413-56347424
13	MAFF	chr11:56340410-56340414	HepG2	liver:	n/a	n/a
14	MAFK	chr11:56347260-56347559	HepG2	liver:	n/a	chr11:56347408-56347423
15	MAFK	chr11:56347287-56347547	HepG2	liver:	n/a	chr11:56347408-56347423
16	MAZ	chr11:56330910-56331028	HepG2	liver:	n/a	n/a
17	MYC	chr11:56361634-56361665	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:56342019-56342030	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:56339309-56339370	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:56353553-56353647	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:56351420-56351427	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:56339995-56340450	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:56331960-56332004	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:56359933-56360093	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:56359966-56359991	Gliobla	brain:	n/a	n/a
26	POLR2A	chr11:56327924-56328019	ProgFib	skin:	n/a	n/a
27	POLR2A	chr11:56337560-56337688	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:56340740-56340825	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:56347338-56347358	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:56346671-56346804	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:56337245-56337510	A549	lung:	n/a	n/a
32	POLR2A	chr11:56330726-56330906	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:56330952-56330994	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:56349086-56349198	MCF10A-Er-Src	breast:	n/a	chr11:56349135-56349143
35	USF1	chr11:56336691-56336994	H1-hESC	embryonic stem cell:	n/a	n/a
36	USF1	chr11:56336713-56337041	H1-hESC	embryonic stem cell:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56345858-56345908	SK-N-SH	brain:	n/a
2	chr11:56345858-56345908	SK-N-SH	brain:	n/a
3	chr11:56345354-56345404	PFSK-1	brain:	n/a
4	chr11:56345858-56345908	SK-N-MC	brain:	n/a
5	chr11:56345862-56345912	IMR90	lung:	fetal
6	chr11:56345862-56345912	ProgFib	skin:	n/a
7	chr11:56345862-56345912	K562	blood:	n/a
8	chr11:56344833-56344883	SAEC	small airway:	n/a
9	chr11:56345354-56345404	IMR90	lung:	fetal
10	chr11:56345354-56345404	AG09319	gingival:	n/a
11	chr11:56345140-56345190	SKMC	muscle:	n/a
12	chr11:56345140-56345190	Hela-S3	cervix:	n/a
13	chr11:56345858-56345908	AG04450	lung:	fetal
14	chr11:56345862-56345912	SK-N-SH_RA	brain:	n/a
15	chr11:56345354-56345404	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:56345354-56345404	RPTEC	kidney:	n/a
17	chr11:56345140-56345190	HIPEpiC	eye:	n/a
18	chr11:56345862-56345912	HEEpiC	esophagus:	n/a
19	chr11:56345140-56345190	Caco-2	colon:	n/a
20	chr11:56345858-56345908	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:56345862-56345912	HRE	kidney:	n/a
22	chr11:56345858-56345908	GM19239	blood:	n/a
23	chr11:56345858-56345908	PFSK-1	brain:	n/a
24	chr11:56344833-56344883	A549	lung:	n/a
25	chr11:56345140-56345190	NB4	blood:	n/a
26	chr11:56344833-56344883	HMEC	breast:	n/a
27	chr11:56345862-56345912	HRCEpiC	kidney:	n/a
28	chr11:56345140-56345190	PANC-1	pancreas:	n/a
29	chr11:56345354-56345404	GM06990	blood:	n/a
30	chr11:56345354-56345404	SK-N-SH_RA	brain:	n/a
31	chr11:56345862-56345912	AG04449	skin:	fetal
32	chr11:56345862-56345912	HMEC	breast:	n/a
33	chr11:56344833-56344883	AG09319	gingival:	n/a
34	chr11:56345140-56345190	BJ	skin:	n/a
35	chr11:56344833-56344883	HUVEC	blood vessel:	n/a
36	chr11:56345140-56345190	T-47D	breast:	n/a
37	chr11:56345354-56345404	HRCEpiC	kidney:	n/a
38	chr11:56345858-56345908	T-47D	breast:	n/a
39	chr11:56345862-56345912	GM12892	blood:	n/a
40	chr11:56345354-56345404	HRE	kidney:	n/a
41	chr11:56345858-56345908	GM06990	blood:	n/a
42	chr11:56345354-56345404	SAEC	small airway:	n/a
43	chr11:56345140-56345190	HNPCEpiC	eye:	n/a
44	chr11:56345862-56345912	HUVEC	blood vessel:	n/a
45	chr11:56345140-56345190	AG09309	skin:	n/a
46	chr11:56344833-56344883	GM12878	blood:	n/a
47	chr11:56345858-56345908	ovcar-3	ovarian:	n/a
48	chr11:56345354-56345404	AoSMC	blood vessel:	n/a
49	chr11:56345140-56345190	HL-60	blood:	n/a
50	chr11:56345140-56345190	AG04450	lung:	fetal

No data

Variant related genes	Relation type
OR5M13P	TF binding region
OR5M10	TF binding region
OR5M13P	CpG island
OR5M10	CpG island

Extended variants
information (count: 207 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185572270	chr11:56326205-56326206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545874868	chr11:56326210-56326211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61902171	chr11:56326213-56326214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574717084	chr11:56326227-56326228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190464379	chr11:56326238-56326239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540214561	chr11:56326270-56326271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10792040	chr11:56326279-56326280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143042306	chr11:56326310-56326311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369764168	chr11:56326333-56326334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550781983	chr11:56326335-56326336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10736677	chr11:56326343-56326344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs193081034	chr11:56326354-56326355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545535878	chr11:56326387-56326388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551535400	chr11:56326413-56326414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566950863	chr11:56326550-56326551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10896479	chr11:56326554-56326555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549339900	chr11:56326563-56326564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568388609	chr11:56326578-56326579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10896480	chr11:56326579-56326580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557203944	chr11:56326582-56326583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570065044	chr11:56342202-56342203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373798365	chr11:56342220-56342221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530992934	chr11:56342221-56342222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552155638	chr11:56342253-56342254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375113660	chr11:56342283-56342284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570557613	chr11:56342289-56342290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113191604	chr11:56342345-56342346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61902203	chr11:56342350-56342351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553679466	chr11:56342369-56342370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138966733	chr11:56342413-56342414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536073840	chr11:56342418-56342419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34857801	chr11:56342437-56342438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142103395	chr11:56342466-56342467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150115559	chr11:56342482-56342483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576061440	chr11:56342486-56342487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560054904	chr11:56342507-56342508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543592960	chr11:56342526-56342527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144781298	chr11:56342534-56342535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576946844	chr11:56342545-56342546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571200209	chr11:56342572-56342573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113072930	chr11:56342649-56342650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148179921	chr11:56342675-56342676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538595437	chr11:56342706-56342707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542067071	chr11:56342729-56342730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12225008	chr11:56342751-56342752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531006534	chr11:56342756-56342757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552580949	chr11:56342757-56342758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552292541	chr11:56342774-56342775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12800694	chr11:56342850-56342851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528488590	chr11:56342871-56342872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56326200-56326600	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr11:56342200-56345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:56349400-56349600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:56351000-56351200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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