Variant report

Variant	nsv896921
Chromosome Location	chr11:5074301-5097802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5080856-5080860	K562	blood:	n/a	n/a
2	CEBPB	chr11:5088528-5088598	HepG2	liver:	n/a	chr11:5088550-5088563
3	CEBPB	chr11:5088539-5088587	A549	lung:	n/a	chr11:5088550-5088563
4	CTCF	chr11:5093160-5093310	HMEC	breast:	n/a	n/a
5	CTCF	chr11:5093220-5093370	RPTEC	kidney:	n/a	n/a
6	CTCF	chr11:5093200-5093350	RPTEC	kidney:	n/a	n/a
7	E2F4	chr11:5088080-5088171	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr11:5092591-5092600	GM12878	blood:	n/a	n/a
9	FOS	chr11:5080042-5080091	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr11:5086394-5086573	SH-SY5Y	brain:	n/a	n/a
11	MAFK	chr11:5077060-5077067	K562	blood:	n/a	n/a
12	MAFK	chr11:5085099-5085320	HepG2	liver:	n/a	n/a
13	MAFK	chr11:5085178-5085298	HepG2	liver:	n/a	n/a
14	MAFK	chr11:5080855-5080864	Hela-S3	cervix:	n/a	n/a
15	MAFK	chr11:5077037-5077072	IMR90	lung:	n/a	n/a
16	MYC	chr11:5095107-5095170	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr11:5081346-5081431	MCF10A-Er-Src	breast:	n/a	n/a
18	NFYA	chr11:5090302-5090487	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:5084774-5085447	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:5077027-5077061	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5087333-5087533	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5090662-5090862	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5091911-5091913	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5074434-5074564	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:5090765-5090878	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:5082513-5082643	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:5080658-5080684	Gliobla	brain:	n/a	n/a
28	POLR2A	chr11:5096572-5096793	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:5082707-5082779	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5091965-5092017	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr11:5081514-5081600	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr11:5076474-5076644	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:5083433-5083626	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:5093436-5093468	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5080941-5080991	AG09309	skin:	n/a
2	chr11:5080941-5080991	SAEC	small airway:	n/a
3	chr11:5080941-5080991	SK-N-SH_RA	brain:	n/a
4	chr11:5080941-5080991	HMEC	breast:	n/a
5	chr11:5080941-5080991	HRE	kidney:	n/a
6	chr11:5080941-5080991	NHBE	bronchial:	n/a
7	chr11:5080941-5080991	GM12892	blood:	n/a
8	chr11:5080452-5080502	HAEpiC	amniotic membrane:	n/a
9	chr11:5080452-5080502	BJ	skin:	n/a
10	chr11:5080452-5080502	NH-A	brain:	n/a
11	chr11:5080941-5080991	GM12891	blood:	n/a
12	chr11:5080452-5080502	A549	lung:	n/a
13	chr11:5080941-5080991	T-47D	breast:	n/a
14	chr11:5080452-5080502	HCM	heart:	n/a
15	chr11:5080941-5080991	NT2-D1	testis:	n/a
16	chr11:5080941-5080991	PrEC	prostate:	n/a
17	chr11:5080941-5080991	HUVEC	blood vessel:	n/a
18	chr11:5080452-5080502	SAEC	small airway:	n/a
19	chr11:5080452-5080502	HNPCEpiC	eye:	n/a
20	chr11:5080941-5080991	PFSK-1	brain:	n/a
21	chr11:5080941-5080991	ProgFib	skin:	n/a
22	chr11:5080452-5080502	HRCEpiC	kidney:	n/a
23	chr11:5080941-5080991	HAEpiC	amniotic membrane:	n/a
24	chr11:5080452-5080502	AG04450	lung:	fetal
25	chr11:5080452-5080502	ECC-1	luminal epithelium:	n/a
26	chr11:5080941-5080991	HCM	heart:	n/a
27	chr11:5080452-5080502	HL-60	blood:	n/a
28	chr11:5080941-5080991	GM12878	blood:	n/a
29	chr11:5080452-5080502	Caco-2	colon:	n/a
30	chr11:5080941-5080991	NH-A	brain:	n/a
31	chr11:5080941-5080991	HEEpiC	esophagus:	n/a
32	chr11:5080452-5080502	GM12892	blood:	n/a
33	chr11:5080452-5080502	HCPEpiC	choroid plexus:	n/a
34	chr11:5080941-5080991	ECC-1	luminal epithelium:	n/a
35	chr11:5080452-5080502	GM19239	blood:	n/a
36	chr11:5080941-5080991	HL-60	blood:	n/a
37	chr11:5080452-5080502	AG09319	gingival:	n/a
38	chr11:5080941-5080991	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:5080452-5080502	HepG2	liver:	n/a
40	chr11:5080941-5080991	Caco-2	colon:	n/a
41	chr11:5080452-5080502	NHBE	bronchial:	n/a
42	chr11:5080941-5080991	PANC-1	pancreas:	n/a
43	chr11:5080941-5080991	Hepatocyte	liver:	n/a
44	chr11:5080452-5080502	AoSMC	blood vessel:	n/a
45	chr11:5080452-5080502	SK-N-SH_RA	brain:	n/a
46	chr11:5080941-5080991	K562	blood:	n/a
47	chr11:5080941-5080991	HNPCEpiC	eye:	n/a
48	chr11:5080941-5080991	Jurkat	blood:	n/a
49	chr11:5080452-5080502	RPTEC	kidney:	n/a
50	chr11:5080452-5080502	AG09309	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5058379..5061279-chr11:5093640..5097390,3	K562	blood:
2	11:5093737-5099374..11:5533869-5541626	Hela-S3	cervix:
3	11:5087036-5092291..11:5721056-5732713	K562	blood:
4	chr11:5075968..5078829-chr11:5086090..5088506,2	K562	blood:
5	11:5093737-5099374..11:5250847-5268367	Hela-S3	cervix:
6	chr11:5075968..5078829-chr11:5086090..5088506,2	K562	blood:
7	chr11:5085239..5087074-chr11:5090783..5092387,2	K562	blood:
8	11:5083896-5087036..11:5525863-5527719	GM12878	blood:
9	chr11:5078947..5082286-chr11:5082776..5087870,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR52E2-1	chr11:5085244-5085336	NONHSAT017660
2	lnc-OR52E2-1	chr11:5083868-5084643	NONHSAT017660

No data

Variant related genes	Relation type
OR52E1	TF binding region
ENSG00000273085	TF binding region
OR52E2	TF binding region
OR52E1	CpG island
ENSG00000273085	CpG island
OR52E2	CpG island
ENSG00000196565	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000176787	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000273085	chromatin interactions

Extended variants
information (count: 658 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74580557	chr11:5080404-5080405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148255884	chr11:5080406-5080407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141829103	chr11:5080416-5080417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs114382179	chr11:5080418-5080419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199913185	chr11:5080430-5080431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532542281	chr11:5080438-5080439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555360095	chr11:5080452-5080453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371504143	chr11:5080453-5080454	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs202028175	chr11:5080484-5080485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139088800	chr11:5080485-5080486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573919932	chr11:5080491-5080492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201816136	chr11:5080499-5080500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144077173	chr11:5080523-5080524	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374783754	chr11:5080527-5080528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs180948995	chr11:5080554-5080555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546284517	chr11:5080555-5080556	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564526108	chr11:5080564-5080565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201714539	chr11:5080565-5080566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368842488	chr11:5080567-5080568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201001738	chr11:5080576-5080577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150524739	chr11:5080578-5080579	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112235231	chr11:5080581-5080582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12576484	chr11:5080591-5080592	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529497286	chr11:5080605-5080606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369925067	chr11:5080609-5080610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373112219	chr11:5080619-5080620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550773411	chr11:5080631-5080632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139521750	chr11:5080652-5080653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113958818	chr11:5080653-5080654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199936023	chr11:5080661-5080662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145335319	chr11:5080683-5080684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80153866	chr11:5080733-5080734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370651935	chr11:5080740-5080741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111975133	chr11:5080770-5080771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116709433	chr11:5080771-5080772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375149505	chr11:5080779-5080780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555677391	chr11:5080786-5080787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546305821	chr11:5080942-5080943	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs143534869	chr11:5080955-5080956	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs146273719	chr11:5080982-5080983	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs7109263	chr11:5081364-5081365	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556473479	chr11:5081369-5081370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs531752226	chr11:5081370-5081371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs188815468	chr11:5081413-5081414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs1463386	chr11:5081419-5081420	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs191112211	chr11:5081430-5081431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs7109504	chr11:5081530-5081531	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183372369	chr11:5081544-5081545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2959185	chr11:5081573-5081574	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs544540829	chr11:5081592-5081593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5080400-5080800	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr11:5084800-5085600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5085600-5086000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:5086000-5086200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:5086200-5093000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:5091000-5091400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:5092800-5093200	Enhancers	Adipose Nuclei	Adipose
8	chr11:5093000-5093400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:5093000-5093400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:5093000-5093400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:5093200-5093600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr11:5093600-5094200	Enhancers	Adipose Nuclei	Adipose

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