Variant report

Variant	esv3384407
Chromosome Location	chr11:56344917-56380827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 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	CTCF	chr11:56349510-56349580	Fibrobl	skin:	n/a	n/a
3	CTCF	chr11:56362545-56362566	Lung_OC	lung:	n/a	n/a
4	EP300	chr11:56351599-56351679	K562	blood:	n/a	n/a
5	FOXA2	chr11:56359507-56359790	A549	lung:	n/a	n/a
6	FOXA2	chr11:56359462-56360029	A549	lung:	n/a	n/a
7	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
8	JUND	chr11:56347234-56347550	HepG2	liver:	n/a	chr11:56347413-56347424
9	MAFK	chr11:56347287-56347547	HepG2	liver:	n/a	chr11:56347408-56347423
10	MAFK	chr11:56376360-56376369	HepG2	liver:	n/a	n/a
11	MAFK	chr11:56347260-56347559	HepG2	liver:	n/a	chr11:56347408-56347423
12	MYC	chr11:56361634-56361665	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:56353553-56353647	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:56346671-56346804	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:56359933-56360093	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:56347338-56347358	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:56359966-56359991	Gliobla	brain:	n/a	n/a
18	POLR2A	chr11:56378297-56378304	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:56351420-56351427	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr11:56379616-56379781	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:56349086-56349198	MCF10A-Er-Src	breast:	n/a	chr11:56349135-56349143
22	STAT3	chr11:56377906-56378059	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr11:56376885-56377223	MCF10A-Er-Src	breast:	n/a	n/a
24	WRNIP1	chr11:56374456-56374478	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56345354-56345404	CMK	blood:	n/a
2	chr11:56380614-56380664	HRE	kidney:	n/a
3	chr11:56345140-56345190	RPTEC	kidney:	n/a
4	chr11:56345862-56345912	SK-N-SH_RA	brain:	n/a
5	chr11:56345858-56345908	NHBE	bronchial:	n/a
6	chr11:56345354-56345404	HRE	kidney:	n/a
7	chr11:56345140-56345190	AG09319	gingival:	n/a
8	chr11:56345862-56345912	SK-N-MC	brain:	n/a
9	chr11:56345354-56345404	SK-N-MC	brain:	n/a
10	chr11:56345354-56345404	RPTEC	kidney:	n/a
11	chr11:56345862-56345912	SAEC	small airway:	n/a
12	chr11:56345862-56345912	AG04450	lung:	fetal
13	chr11:56345858-56345908	MCF10A-Er-Src	breast:	n/a
14	chr11:56345354-56345404	SAEC	small airway:	n/a
15	chr11:56345354-56345404	NH-A	brain:	n/a
16	chr11:56345858-56345908	GM12892	blood:	n/a
17	chr11:56345354-56345404	HRCEpiC	kidney:	n/a
18	chr11:56345140-56345190	HEK293	kidney:	embryo
19	chr11:56345140-56345190	HMEC	breast:	n/a
20	chr11:56345140-56345190	AoSMC	blood vessel:	n/a
21	chr11:56345140-56345190	HCPEpiC	choroid plexus:	n/a
22	chr11:56345354-56345404	AG04449	skin:	fetal
23	chr11:56345862-56345912	HMEC	breast:	n/a
24	chr11:56345858-56345908	GM12891	blood:	n/a
25	chr11:56345862-56345912	U87	brain:	n/a
26	chr11:56345862-56345912	BE2_C	brain:	n/a
27	chr11:56345862-56345912	ovcar-3	ovarian:	n/a
28	chr11:56345858-56345908	NB4	blood:	n/a
29	chr11:56345354-56345404	Hepatocyte	liver:	n/a
30	chr11:56345140-56345190	GM19239	blood:	n/a
31	chr11:56380614-56380664	RPTEC	kidney:	n/a
32	chr11:56345140-56345190	PFSK-1	brain:	n/a
33	chr11:56345858-56345908	CMK	blood:	n/a
34	chr11:56380614-56380664	AG04450	lung:	fetal
35	chr11:56345862-56345912	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:56345862-56345912	LNCaP	prostate:	n/a
37	chr11:56345140-56345190	CMK	blood:	n/a
38	chr11:56345140-56345190	AG04449	skin:	fetal
39	chr11:56345862-56345912	Hela-S3	cervix:	n/a
40	chr11:56345858-56345908	AoSMC	blood vessel:	n/a
41	chr11:56345862-56345912	H1-hESC	embryonic stem cell:	embryo
42	chr11:56380614-56380664	BJ	skin:	n/a
43	chr11:56345862-56345912	BJ	skin:	n/a
44	chr11:56345354-56345404	HEEpiC	esophagus:	n/a
45	chr11:56345140-56345190	ProgFib	skin:	n/a
46	chr11:56345140-56345190	HUVEC	blood vessel:	n/a
47	chr11:56345140-56345190	A549	lung:	n/a
48	chr11:56345862-56345912	NH-A	brain:	n/a
49	chr11:56345140-56345190	H1-hESC	embryonic stem cell:	embryo
50	chr11:56345354-56345404	ovcar-3	ovarian:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5AR1-1	chr11:56372530-56372667	ucscGeneNc_uc001njj_1

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: 56 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200756330	chr11:56344926-56344927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371718813	chr11:56344937-56344938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376464570	chr11:56344943-56344944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367632930	chr11:56344944-56344945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201179468	chr11:56344975-56344976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528935648	chr11:56344976-56344977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10792043	chr11:56344993-56344994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369740867	chr11:56344997-56344998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190078336	chr11:56345354-56345355	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs552107401	chr11:56345378-56345379	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs540426037	chr11:56345403-56345404	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs539043880	chr11:56345858-56345859	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs4382928	chr11:56345862-56345863	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572401942	chr11:56345881-56345882	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs138905903	chr11:56346694-56346695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs559738629	chr11:56346727-56346728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532739244	chr11:56346759-56346760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528493356	chr11:56346784-56346785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181468610	chr11:56347259-56347260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114775376	chr11:56347277-56347278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531322942	chr11:56347337-56347338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs138263652	chr11:56347386-56347387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565554472	chr11:56347401-56347402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528974434	chr11:56347407-56347408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532773243	chr11:56347443-56347444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547933670	chr11:56347471-56347472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186055454	chr11:56347508-56347509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149645917	chr11:56347555-56347556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs76266444	chr11:56349087-56349088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs181912862	chr11:56349096-56349097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534303216	chr11:56349100-56349101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs139134025	chr11:56349145-56349146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555603330	chr11:56349147-56349148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190505717	chr11:56349434-56349435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529967078	chr11:56349443-56349444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548497903	chr11:56349450-56349451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569909602	chr11:56349472-56349473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12418150	chr11:56349477-56349478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77413628	chr11:56349482-56349483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553544899	chr11:56349483-56349484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146780889	chr11:56349496-56349497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140629603	chr11:56349527-56349528	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs568740252	chr11:56349547-56349548	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565305553	chr11:56349570-56349571	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs61902209	chr11:56351019-56351020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545503474	chr11:56351022-56351023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145802156	chr11:56351034-56351035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555922338	chr11:56351039-56351040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574148568	chr11:56351055-56351056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138616662	chr11:56351076-56351077	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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

Chromatin state (count:3 , 50 per page) page: 1

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

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