Variant report

Variant	nsv7654
Chromosome Location	chr11:5782093-5826200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:5825288-5825535	K562	blood:	n/a	n/a
2	CBX3	chr11:5825224-5825619	K562	blood:	n/a	n/a
3	CEBPB	chr11:5788246-5788520	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:5789130-5789308	HepG2	liver:	n/a	chr11:5789200-5789211
5	CEBPB	chr11:5818464-5818701	HepG2	liver:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
6	CEBPB	chr11:5789182-5789250	A549	lung:	n/a	chr11:5789200-5789211
7	CEBPB	chr11:5788174-5788674	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:5818545-5818706	A549	lung:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
9	CTCF	chr11:5809320-5809470	GM12866	blood:	n/a	n/a
10	CTCF	chr11:5786760-5786910	GM12864	blood:	n/a	n/a
11	E2F4	chr11:5783131-5784075	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:5782668-5782868	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr11:5800936-5801305	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:5788384-5788549	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:5788361-5788464	MCF10A-Er-Src	breast:	n/a	n/a
16	JUN	chr11:5792017-5792107	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr11:5824981-5825993	K562	blood:	n/a	n/a
18	KAP1	chr11:5789889-5790424	K562	blood:	n/a	n/a
19	MAFF	chr11:5822449-5822620	HepG2	liver:	n/a	chr11:5822570-5822588
20	MAFK	chr11:5805138-5805183	IMR90	lung:	n/a	n/a
21	MAFK	chr11:5822459-5822719	HepG2	liver:	n/a	chr11:5822572-5822582 chr11:5822571-5822586 chr11:5822573-5822582
22	MAFK	chr11:5819987-5820055	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr11:5782122-5782194	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFK	chr11:5800411-5800611	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
25	MAFK	chr11:5800456-5800595	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
26	MAFK	chr11:5822455-5822602	HepG2	liver:	n/a	chr11:5822572-5822582 chr11:5822571-5822586 chr11:5822573-5822582
27	MAZ	chr11:5810427-5810444	HepG2	liver:	n/a	n/a
28	MYC	chr11:5790602-5790660	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr11:5810776-5810791	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFYB	chr11:5792018-5792200	Hela-S3	cervix:	n/a	n/a
31	NRF1	chr11:5791607-5791666	K562	blood:	n/a	n/a
32	POLR2A	chr11:5815326-5815526	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:5809416-5809559	Gliobla	brain:	n/a	n/a
34	POLR2A	chr11:5816936-5817136	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5797196-5797292	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5807000-5807153	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5803638-5803658	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:5806597-5806735	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5798764-5798769	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:5790861-5790884	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:5801153-5801384	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:5789755-5789955	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:5809517-5809715	A549	lung:	n/a	n/a
44	POLR2A	chr11:5815698-5815775	A549	lung:	n/a	n/a
45	POLR2A	chr11:5796644-5796838	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:5799805-5799835	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:5784983-5785051	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:5789114-5789314	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:5825691-5825699	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:5812962-5812985	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5801244-5801294	HRE	kidney:	n/a
2	chr11:5800287-5800337	AG10803	skin:	n/a
3	chr11:5809911-5809961	NT2-D1	testis:	n/a
4	chr11:5800287-5800337	PrEC	prostate:	n/a
5	chr11:5801244-5801294	T-47D	breast:	n/a
6	chr11:5800287-5800337	ECC-1	luminal epithelium:	n/a
7	chr11:5811184-5811234	HCPEpiC	choroid plexus:	n/a
8	chr11:5799446-5799496	AoSMC	blood vessel:	n/a
9	chr11:5799446-5799496	AG10803	skin:	n/a
10	chr11:5811184-5811234	Jurkat	blood:	n/a
11	chr11:5800287-5800337	RPTEC	kidney:	n/a
12	chr11:5799446-5799496	MCF-7	breast:	n/a
13	chr11:5811184-5811234	K562	blood:	n/a
14	chr11:5811184-5811234	GM12892	blood:	n/a
15	chr11:5811184-5811234	PFSK-1	brain:	n/a
16	chr11:5799446-5799496	HUVEC	blood vessel:	n/a
17	chr11:5800287-5800337	LNCaP	prostate:	n/a
18	chr11:5811184-5811234	HepG2	liver:	n/a
19	chr11:5809911-5809961	K562	blood:	n/a
20	chr11:5799446-5799496	AG09319	gingival:	n/a
21	chr11:5809911-5809961	PANC-1	pancreas:	n/a
22	chr11:5811184-5811234	HRPEpiC	eye:	n/a
23	chr11:5801244-5801294	H1-hESC	embryonic stem cell:	embryo
24	chr11:5801244-5801294	HEK293	kidney:	embryo
25	chr11:5809911-5809961	GM12878	blood:	n/a
26	chr11:5799446-5799496	LNCaP	prostate:	n/a
27	chr11:5811184-5811234	HL-60	blood:	n/a
28	chr11:5811184-5811234	Caco-2	colon:	n/a
29	chr11:5811184-5811234	H1-hESC	embryonic stem cell:	embryo
30	chr11:5809911-5809961	HCF	heart:	n/a
31	chr11:5799446-5799496	Jurkat	blood:	n/a
32	chr11:5799446-5799496	SAEC	small airway:	n/a
33	chr11:5801244-5801294	AG04449	skin:	fetal
34	chr11:5800287-5800337	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:5809911-5809961	MCF10A-Er-Src	breast:	n/a
36	chr11:5811184-5811234	NB4	blood:	n/a
37	chr11:5809911-5809961	NHBE	bronchial:	n/a
38	chr11:5800287-5800337	Hepatocyte	liver:	n/a
39	chr11:5801244-5801294	U87	brain:	n/a
40	chr11:5800287-5800337	SKMC	muscle:	n/a
41	chr11:5801244-5801294	PrEC	prostate:	n/a
42	chr11:5801244-5801294	Hepatocyte	liver:	n/a
43	chr11:5800287-5800337	MCF-7	breast:	n/a
44	chr11:5809911-5809961	AG09309	skin:	n/a
45	chr11:5799446-5799496	A549	lung:	n/a
46	chr11:5801244-5801294	AG09319	gingival:	n/a
47	chr11:5811184-5811234	ECC-1	luminal epithelium:	n/a
48	chr11:5800287-5800337	HRE	kidney:	n/a
49	chr11:5799446-5799496	ProgFib	skin:	n/a
50	chr11:5800287-5800337	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:
2	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:
3	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:

Variant related genes	Relation type
OR52N1	TF binding region
OR52N5	TF binding region
OR52N3P	TF binding region
OR56B2P	TF binding region
OR52N1	CpG island
OR52N5	CpG island
OR52N3P	CpG island
OR56B2P	CpG island

Extended variants
information (count: 382 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:382 , 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	rs553932918	chr11:5782124-5782125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs397977364	chr11:5782128-5782129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs202138619	chr11:5782129-5782130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs543081783	chr11:5782136-5782137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34317277	chr11:5782186-5782187	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531691287	chr11:5782194-5782195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577514418	chr11:5782690-5782691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540392352	chr11:5782726-5782727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs565197834	chr11:5782727-5782728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140048232	chr11:5782753-5782754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1032648	chr11:5782756-5782757	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377469540	chr11:5782759-5782760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs1032649	chr11:5782773-5782774	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35916605	chr11:5782844-5782845	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183344394	chr11:5782861-5782862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569877706	chr11:5783142-5783143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147777316	chr11:5783211-5783212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2047461	chr11:5783226-5783227	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570087755	chr11:5783245-5783246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534332780	chr11:5783262-5783263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371215581	chr11:5783291-5783292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183496880	chr11:5783324-5783325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548628350	chr11:5783382-5783383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs386750210	chr11:5783420-5783421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs549015316	chr11:5783434-5783435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3060960	chr11:5783435-5783436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs141073293	chr11:5783473-5783474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73408134	chr11:5783528-5783529	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs968990	chr11:5783577-5783578	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145887921	chr11:5783585-5783586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539267345	chr11:5783624-5783625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs577273450	chr11:5783637-5783638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs541446712	chr11:5783676-5783677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs116505726	chr11:5783694-5783695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574641252	chr11:5783707-5783708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542146085	chr11:5783745-5783746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563318214	chr11:5783810-5783811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs78624158	chr11:5783814-5783815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs968991	chr11:5783816-5783817	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532399656	chr11:5783834-5783835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566530057	chr11:5783842-5783843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148980705	chr11:5783880-5783881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs968992	chr11:5783889-5783890	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568090418	chr11:5783898-5783899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs145829211	chr11:5783927-5783928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2047462	chr11:5783948-5783949	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35462085	chr11:5783967-5783968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs2047463	chr11:5784029-5784030	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138305009	chr11:5784058-5784059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs557510156	chr11:5784060-5784061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:11 , 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
3	chr11:5818400-5819000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:5821000-5821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:5821000-5824400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:5821600-5821800	Enhancers	Left Ventricle	heart
7	chr11:5821600-5822000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:5823200-5829600	Weak transcription	Fetal Heart	heart
9	chr11:5824400-5826200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:5825800-5829400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:5826200-5828600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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