Variant report

Variant	esv3584635
Chromosome Location	chr11:5788080-5812360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5789130-5789308	HepG2	liver:	n/a	chr11:5789200-5789211
2	CEBPB	chr11:5788246-5788520	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:5789182-5789250	A549	lung:	n/a	chr11:5789200-5789211
4	CEBPB	chr11:5788174-5788674	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:5809320-5809470	GM12866	blood:	n/a	n/a
6	E2F4	chr11:5800936-5801305	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:5788384-5788549	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:5788361-5788464	MCF10A-Er-Src	breast:	n/a	n/a
9	JUN	chr11:5792017-5792107	H1-hESC	embryonic stem cell:	n/a	n/a
10	KAP1	chr11:5789889-5790424	K562	blood:	n/a	n/a
11	MAFK	chr11:5805138-5805183	IMR90	lung:	n/a	n/a
12	MAFK	chr11:5800411-5800611	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
13	MAFK	chr11:5800456-5800595	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
14	MAZ	chr11:5810427-5810444	HepG2	liver:	n/a	n/a
15	MYC	chr11:5810776-5810791	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr11:5790602-5790660	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFYB	chr11:5792018-5792200	Hela-S3	cervix:	n/a	n/a
18	NRF1	chr11:5791607-5791666	K562	blood:	n/a	n/a
19	POLR2A	chr11:5789114-5789314	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:5809416-5809559	Gliobla	brain:	n/a	n/a
21	POLR2A	chr11:5801153-5801384	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5798764-5798769	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5799805-5799835	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5790861-5790884	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:5806597-5806735	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:5796644-5796838	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:5807000-5807153	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:5803638-5803658	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:5789755-5789955	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5809517-5809715	A549	lung:	n/a	n/a
31	POLR2A	chr11:5797196-5797292	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr11:5806022-5806220	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:5805400-5805462	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:5801346-5801502	MCF10A-Er-Src	breast:	n/a	n/a
35	ZNF274	chr11:5802711-5802914	NT2-D1	testis:	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	chr11:5801244-5801294	AG10803	skin:	n/a
2	chr11:5799446-5799496	AoSMC	blood vessel:	n/a
3	chr11:5800287-5800337	BJ	skin:	n/a
4	chr11:5799446-5799496	MCF10A-Er-Src	breast:	n/a
5	chr11:5801244-5801294	A549	lung:	n/a
6	chr11:5799446-5799496	HEK293	kidney:	embryo
7	chr11:5801244-5801294	PFSK-1	brain:	n/a
8	chr11:5799446-5799496	T-47D	breast:	n/a
9	chr11:5800287-5800337	SK-N-SH_RA	brain:	n/a
10	chr11:5809911-5809961	SKMC	muscle:	n/a
11	chr11:5809911-5809961	SK-N-MC	brain:	n/a
12	chr11:5801244-5801294	AG09319	gingival:	n/a
13	chr11:5809911-5809961	HL-60	blood:	n/a
14	chr11:5800287-5800337	HRCEpiC	kidney:	n/a
15	chr11:5811184-5811234	AoSMC	blood vessel:	n/a
16	chr11:5799446-5799496	HMEC	breast:	n/a
17	chr11:5809911-5809961	BJ	skin:	n/a
18	chr11:5799446-5799496	Caco-2	colon:	n/a
19	chr11:5801244-5801294	LNCaP	prostate:	n/a
20	chr11:5801244-5801294	NHBE	bronchial:	n/a
21	chr11:5800287-5800337	Hepatocyte	liver:	n/a
22	chr11:5811184-5811234	HEK293	kidney:	embryo
23	chr11:5801244-5801294	BJ	skin:	n/a
24	chr11:5799446-5799496	GM12878	blood:	n/a
25	chr11:5809911-5809961	PrEC	prostate:	n/a
26	chr11:5811184-5811234	PrEC	prostate:	n/a
27	chr11:5799446-5799496	GM06990	blood:	n/a
28	chr11:5800287-5800337	BE2_C	brain:	n/a
29	chr11:5801244-5801294	SK-N-SH	brain:	n/a
30	chr11:5801244-5801294	HL-60	blood:	n/a
31	chr11:5809911-5809961	AG09319	gingival:	n/a
32	chr11:5811184-5811234	HRE	kidney:	n/a
33	chr11:5800287-5800337	HAEpiC	amniotic membrane:	n/a
34	chr11:5809911-5809961	HRCEpiC	kidney:	n/a
35	chr11:5799446-5799496	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:5801244-5801294	HepG2	liver:	n/a
37	chr11:5799446-5799496	SK-N-SH	brain:	n/a
38	chr11:5799446-5799496	HL-60	blood:	n/a
39	chr11:5809911-5809961	NH-A	brain:	n/a
40	chr11:5800287-5800337	GM12891	blood:	n/a
41	chr11:5811184-5811234	HRPEpiC	eye:	n/a
42	chr11:5811184-5811234	NT2-D1	testis:	n/a
43	chr11:5800287-5800337	PrEC	prostate:	n/a
44	chr11:5800287-5800337	PANC-1	pancreas:	n/a
45	chr11:5799446-5799496	K562	blood:	n/a
46	chr11:5801244-5801294	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:5799446-5799496	LNCaP	prostate:	n/a
48	chr11:5809911-5809961	H1-hESC	embryonic stem cell:	embryo
49	chr11:5811184-5811234	SKMC	muscle:	n/a
50	chr11:5799446-5799496	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:

No data

Variant related genes	Relation type
OR52N1	TF binding region
OR52N5	TF binding region
OR52N1	CpG island
OR52N5	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546574017	chr11:5800431-5800432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs11039010	chr11:5800436-5800437	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138608576	chr11:5800472-5800473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550475196	chr11:5800486-5800487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371477887	chr11:5800489-5800490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11039011	chr11:5800573-5800574	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531586330	chr11:5800606-5800607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546078857	chr11:5800940-5800941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79821645	chr11:5800996-5800997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374708121	chr11:5801034-5801035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528542727	chr11:5801065-5801066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552739228	chr11:5801083-5801084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540348467	chr11:5801087-5801088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139000429	chr11:5801093-5801094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529257921	chr11:5801130-5801131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12362906	chr11:5801153-5801154	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183250955	chr11:5801212-5801213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376375279	chr11:5801224-5801225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188710346	chr11:5801233-5801234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs527895294	chr11:5801244-5801245	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs551274068	chr11:5801269-5801270	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs191067689	chr11:5801276-5801277	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs531740074	chr11:5801339-5801340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533845936	chr11:5801383-5801384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555518709	chr11:5801403-5801404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567232755	chr11:5801496-5801497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10769214	chr11:5802853-5802854	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111441353	chr11:5802902-5802903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12794769	chr11:5809230-5809231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79632520	chr11:5809241-5809242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562500737	chr11:5809243-5809244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147782763	chr11:5809244-5809245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11039036	chr11:5809248-5809249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201810252	chr11:5809280-5809281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200275481	chr11:5809281-5809282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368530180	chr11:5809282-5809283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35850861	chr11:5809288-5809289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368718813	chr11:5809302-5809303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7934670	chr11:5809308-5809309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372175646	chr11:5809339-5809340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375347086	chr11:5809340-5809341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548980477	chr11:5809341-5809342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146958510	chr11:5809354-5809355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368353863	chr11:5809395-5809396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139204244	chr11:5809396-5809397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11823184	chr11:5809405-5809406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375501780	chr11:5809439-5809440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147301110	chr11:5809455-5809456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140764863	chr11:5809456-5809457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10838637	chr11:5809477-5809478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5809200-5809600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:5812200-5812600	Enhancers	Fetal Brain Male	brain

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