Variant report

Variant	nsv1048993
Chromosome Location	chr11:5783383-5812348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5789182-5789250	A549	lung:	n/a	chr11:5789200-5789211
2	CEBPB	chr11:5788174-5788674	Hela-S3	cervix:	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	CTCF	chr11:5809320-5809470	GM12866	blood:	n/a	n/a
6	CTCF	chr11:5786760-5786910	GM12864	blood:	n/a	n/a
7	E2F4	chr11:5800936-5801305	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr11:5783131-5784075	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:5788384-5788549	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:5788361-5788464	MCF10A-Er-Src	breast:	n/a	n/a
11	JUN	chr11:5792017-5792107	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr11:5789889-5790424	K562	blood:	n/a	n/a
13	MAFK	chr11:5800456-5800595	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
14	MAFK	chr11:5805138-5805183	IMR90	lung:	n/a	n/a
15	MAFK	chr11:5800411-5800611	HepG2	liver:	n/a	chr11:5800539-5800554 chr11:5800538-5800552 chr11:5800540-5800560
16	MAZ	chr11:5810427-5810444	HepG2	liver:	n/a	n/a
17	MYC	chr11:5810776-5810791	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr11:5790602-5790660	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFYB	chr11:5792018-5792200	Hela-S3	cervix:	n/a	n/a
20	NRF1	chr11:5791607-5791666	K562	blood:	n/a	n/a
21	POLR2A	chr11:5796644-5796838	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5803638-5803658	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5789755-5789955	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5784983-5785051	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:5801153-5801384	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:5797196-5797292	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:5785455-5785612	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:5807000-5807153	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:5809416-5809559	Gliobla	brain:	n/a	n/a
30	POLR2A	chr11:5809517-5809715	A549	lung:	n/a	n/a
31	POLR2A	chr11:5799805-5799835	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:5789114-5789314	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:5798764-5798769	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:5790861-5790884	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5806597-5806735	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr11:5805400-5805462	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:5806022-5806220	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr11:5801346-5801502	MCF10A-Er-Src	breast:	n/a	n/a
39	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	chr11:5809911-5809961	MCF-7	breast:	n/a
2	chr11:5801244-5801294	H1-hESC	embryonic stem cell:	embryo
3	chr11:5809911-5809961	HMEC	breast:	n/a
4	chr11:5809911-5809961	SK-N-MC	brain:	n/a
5	chr11:5809911-5809961	HNPCEpiC	eye:	n/a
6	chr11:5811184-5811234	CMK	blood:	n/a
7	chr11:5809911-5809961	HRE	kidney:	n/a
8	chr11:5811184-5811234	U87	brain:	n/a
9	chr11:5801244-5801294	NH-A	brain:	n/a
10	chr11:5799446-5799496	RPTEC	kidney:	n/a
11	chr11:5801244-5801294	HRCEpiC	kidney:	n/a
12	chr11:5799446-5799496	A549	lung:	n/a
13	chr11:5801244-5801294	AG04449	skin:	fetal
14	chr11:5800287-5800337	AG09309	skin:	n/a
15	chr11:5809911-5809961	AG09319	gingival:	n/a
16	chr11:5809911-5809961	PANC-1	pancreas:	n/a
17	chr11:5809911-5809961	HUVEC	blood vessel:	n/a
18	chr11:5809911-5809961	HEK293	kidney:	embryo
19	chr11:5811184-5811234	K562	blood:	n/a
20	chr11:5809911-5809961	PrEC	prostate:	n/a
21	chr11:5800287-5800337	MCF-7	breast:	n/a
22	chr11:5801244-5801294	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:5800287-5800337	HRE	kidney:	n/a
24	chr11:5800287-5800337	HEK293	kidney:	embryo
25	chr11:5799446-5799496	GM12892	blood:	n/a
26	chr11:5809911-5809961	HCT-116	colon:	n/a
27	chr11:5800287-5800337	Hela-S3	cervix:	n/a
28	chr11:5809911-5809961	MCF10A-Er-Src	breast:	n/a
29	chr11:5811184-5811234	AG04450	lung:	fetal
30	chr11:5799446-5799496	NHDF-neo	bronchial:	n/a
31	chr11:5799446-5799496	MCF-7	breast:	n/a
32	chr11:5801244-5801294	AG10803	skin:	n/a
33	chr11:5799446-5799496	SK-N-SH_RA	brain:	n/a
34	chr11:5801244-5801294	HUVEC	blood vessel:	n/a
35	chr11:5800287-5800337	BJ	skin:	n/a
36	chr11:5799446-5799496	PrEC	prostate:	n/a
37	chr11:5800287-5800337	GM06990	blood:	n/a
38	chr11:5801244-5801294	GM06990	blood:	n/a
39	chr11:5809911-5809961	GM12891	blood:	n/a
40	chr11:5800287-5800337	ovcar-3	ovarian:	n/a
41	chr11:5800287-5800337	AG10803	skin:	n/a
42	chr11:5801244-5801294	HMEC	breast:	n/a
43	chr11:5800287-5800337	HEEpiC	esophagus:	n/a
44	chr11:5809911-5809961	PFSK-1	brain:	n/a
45	chr11:5809911-5809961	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:5801244-5801294	GM12892	blood:	n/a
47	chr11:5811184-5811234	HRPEpiC	eye:	n/a
48	chr11:5801244-5801294	GM12878	blood:	n/a
49	chr11:5801244-5801294	Caco-2	colon:	n/a
50	chr11:5811184-5811234	PFSK-1	brain:	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
OR56B2P	TF binding region
OR52N1	CpG island
OR52N5	CpG island
OR56B2P	CpG island

Extended variants
information (count: 106 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386750210	chr11:5783420-5783421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549015316	chr11:5783434-5783435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3060960	chr11:5783435-5783436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141073293	chr11:5783473-5783474	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73408134	chr11:5783528-5783529	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs968990	chr11:5783577-5783578	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145887921	chr11:5783585-5783586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539267345	chr11:5783624-5783625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577273450	chr11:5783637-5783638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541446712	chr11:5783676-5783677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs116505726	chr11:5783694-5783695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574641252	chr11:5783707-5783708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542146085	chr11:5783745-5783746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs563318214	chr11:5783810-5783811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78624158	chr11:5783814-5783815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs968991	chr11:5783816-5783817	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532399656	chr11:5783834-5783835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566530057	chr11:5783842-5783843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148980705	chr11:5783880-5783881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs968992	chr11:5783889-5783890	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568090418	chr11:5783898-5783899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145829211	chr11:5783927-5783928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2047462	chr11:5783948-5783949	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35462085	chr11:5783967-5783968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2047463	chr11:5784029-5784030	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138305009	chr11:5784058-5784059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557510156	chr11:5784060-5784061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7950248	chr11:5785023-5785024	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528839705	chr11:5785030-5785031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535622759	chr11:5785462-5785463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557317181	chr11:5785474-5785475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568947454	chr11:5785488-5785489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539329551	chr11:5785499-5785500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147196563	chr11:5785519-5785520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs77106155	chr11:5785544-5785545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77995213	chr11:5785549-5785550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs144309747	chr11:5785600-5785601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546574017	chr11:5800431-5800432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11039010	chr11:5800436-5800437	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138608576	chr11:5800472-5800473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550475196	chr11:5800486-5800487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371477887	chr11:5800489-5800490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11039011	chr11:5800573-5800574	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531586330	chr11:5800606-5800607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546078857	chr11:5800940-5800941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79821645	chr11:5800996-5800997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374708121	chr11:5801034-5801035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528542727	chr11:5801065-5801066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552739228	chr11:5801083-5801084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540348467	chr11:5801087-5801088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

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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