Variant report

Variant	nsv975827
Chromosome Location	chr11:5080931-5104221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5088539-5088587	A549	lung:	n/a	chr11:5088550-5088563
2	CEBPB	chr11:5088528-5088598	HepG2	liver:	n/a	chr11:5088550-5088563
3	CTCF	chr11:5093220-5093370	RPTEC	kidney:	n/a	n/a
4	CTCF	chr11:5093160-5093310	HMEC	breast:	n/a	n/a
5	CTCF	chr11:5093200-5093350	RPTEC	kidney:	n/a	n/a
6	E2F4	chr11:5088080-5088171	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr11:5092591-5092600	GM12878	blood:	n/a	n/a
8	FOS	chr11:5098941-5099205	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr11:5086394-5086573	SH-SY5Y	brain:	n/a	n/a
10	MAFF	chr11:5102810-5102884	HepG2	liver:	n/a	n/a
11	MAFK	chr11:5102763-5102986	HepG2	liver:	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	chr11:5102703-5102978	IMR90	lung:	n/a	n/a
15	MAFK	chr11:5102724-5102961	HepG2	liver:	n/a	n/a
16	MAZ	chr11:5098112-5098113	Hela-S3	cervix:	n/a	n/a
17	MYC	chr11:5081346-5081431	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr11:5095107-5095170	MCF10A-Er-Src	breast:	n/a	n/a
19	NFYA	chr11:5090302-5090487	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:5091965-5092017	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:5087333-5087533	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:5096572-5096793	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:5091911-5091913	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:5099968-5100033	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:5099082-5099085	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:5098084-5098166	Gliobla	brain:	n/a	n/a
27	POLR2A	chr11:5082513-5082643	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:5101843-5102067	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:5082707-5082779	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5090765-5090878	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:5104008-5104127	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:5090662-5090862	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:5084774-5085447	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:5083433-5083626	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr11:5101586-5101660	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr11:5100472-5100561	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:5081514-5081600	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr11:5093436-5093468	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5080941-5080991	Jurkat	blood:	n/a
2	chr11:5080941-5080991	PFSK-1	brain:	n/a
3	chr11:5080941-5080991	T-47D	breast:	n/a
4	chr11:5080941-5080991	Caco-2	colon:	n/a
5	chr11:5080941-5080991	HL-60	blood:	n/a
6	chr11:5080941-5080991	HEEpiC	esophagus:	n/a
7	chr11:5080941-5080991	BE2_C	brain:	n/a
8	chr11:5080941-5080991	CMK	blood:	n/a
9	chr11:5080941-5080991	SKMC	muscle:	n/a
10	chr11:5080941-5080991	K562	blood:	n/a
11	chr11:5080941-5080991	AG09309	skin:	n/a
12	chr11:5080941-5080991	SAEC	small airway:	n/a
13	chr11:5080941-5080991	HCF	heart:	n/a
14	chr11:5080941-5080991	HMEC	breast:	n/a
15	chr11:5080941-5080991	GM19239	blood:	n/a
16	chr11:5080941-5080991	SK-N-MC	brain:	n/a
17	chr11:5080941-5080991	IMR90	lung:	fetal
18	chr11:5080941-5080991	NHDF-neo	bronchial:	n/a
19	chr11:5080941-5080991	BJ	skin:	n/a
20	chr11:5080941-5080991	HUVEC	blood vessel:	n/a
21	chr11:5080941-5080991	ProgFib	skin:	n/a
22	chr11:5080941-5080991	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:5080941-5080991	HEK293	kidney:	embryo
24	chr11:5080941-5080991	GM06990	blood:	n/a
25	chr11:5080941-5080991	GM12891	blood:	n/a
26	chr11:5080941-5080991	AG09319	gingival:	n/a
27	chr11:5080941-5080991	AG10803	skin:	n/a
28	chr11:5080941-5080991	HCPEpiC	choroid plexus:	n/a
29	chr11:5080941-5080991	HRE	kidney:	n/a
30	chr11:5080941-5080991	NB4	blood:	n/a
31	chr11:5080941-5080991	H1-hESC	embryonic stem cell:	embryo
32	chr11:5080941-5080991	HAEpiC	amniotic membrane:	n/a
33	chr11:5080941-5080991	GM12892	blood:	n/a
34	chr11:5080941-5080991	A549	lung:	n/a
35	chr11:5080941-5080991	PANC-1	pancreas:	n/a
36	chr11:5080941-5080991	HepG2	liver:	n/a
37	chr11:5080941-5080991	PrEC	prostate:	n/a
38	chr11:5080941-5080991	LNCaP	prostate:	n/a
39	chr11:5080941-5080991	AG04449	skin:	fetal
40	chr11:5080941-5080991	HRPEpiC	eye:	n/a
41	chr11:5080941-5080991	Hepatocyte	liver:	n/a
42	chr11:5080941-5080991	SK-N-SH	brain:	n/a
43	chr11:5080941-5080991	NT2-D1	testis:	n/a
44	chr11:5080941-5080991	AG04450	lung:	fetal
45	chr11:5080941-5080991	MCF-7	breast:	n/a
46	chr11:5080941-5080991	HNPCEpiC	eye:	n/a
47	chr11:5080941-5080991	ECC-1	luminal epithelium:	n/a
48	chr11:5080941-5080991	U87	brain:	n/a
49	chr11:5080941-5080991	HCT-116	colon:	n/a
50	chr11:5080941-5080991	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5078947..5082286-chr11:5082776..5087870,5	K562	blood:
2	11:5102660-5106360..11:5250847-5268367	Hela-S3	cervix:
3	11:5093737-5099374..11:5533869-5541626	Hela-S3	cervix:
4	chr11:5075968..5078829-chr11:5086090..5088506,2	K562	blood:
5	11:5093737-5099374..11:5250847-5268367	Hela-S3	cervix:
6	chr11:5085239..5087074-chr11:5090783..5092387,2	K562	blood:
7	chr11:5104003..5106355-chr11:5107356..5109322,2	K562	blood:
8	chr11:4918642..4921294-chr11:5101983..5104188,2	K562	blood:
9	11:5087036-5092291..11:5721056-5732713	K562	blood:
10	11:5102660-5106360..11:5469844-5475173	H1-hESC	embryonic stem cell:	embryo
11	11:5083896-5087036..11:5525863-5527719	GM12878	blood:
12	chr11:5058379..5061279-chr11:5093640..5097390,3	K562	blood:

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

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

No data

Variant related genes	Relation type
OR52S1P	TF binding region
OR52E1	TF binding region
ENSG00000273085	TF binding region
OR52E2	TF binding region
OR52S1P	CpG island
OR52E1	CpG island
ENSG00000273085	CpG island
OR52E2	CpG island
ENSG00000273085	chromatin interactions
ENSG00000196565	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000176787	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000213931	chromatin interactions

Extended variants
information (count: 800 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546305821	chr11:5080942-5080943	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs143534869	chr11:5080955-5080956	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs146273719	chr11:5080982-5080983	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs7109263	chr11:5081364-5081365	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556473479	chr11:5081369-5081370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531752226	chr11:5081370-5081371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs188815468	chr11:5081413-5081414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs1463386	chr11:5081419-5081420	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191112211	chr11:5081430-5081431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7109504	chr11:5081530-5081531	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183372369	chr11:5081544-5081545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2959185	chr11:5081573-5081574	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs544540829	chr11:5081592-5081593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533160972	chr11:5082513-5082514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs142533027	chr11:5082515-5082516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2445338	chr11:5082557-5082558	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538989964	chr11:5082570-5082571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185141063	chr11:5082577-5082578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572591451	chr11:5082620-5082621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377375694	chr11:5082621-5082622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111229635	chr11:5082623-5082624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535896460	chr11:5082710-5082711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181204832	chr11:5082740-5082741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368101906	chr11:5082767-5082768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532119933	chr11:5082800-5082801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184781295	chr11:5082927-5082928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188741492	chr11:5082934-5082935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs5789353	chr11:5082941-5082942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs397975679	chr11:5082949-5082950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12574964	chr11:5082951-5082952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529893376	chr11:5083055-5083056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547987380	chr11:5083120-5083121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2257785	chr11:5083168-5083169	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569100247	chr11:5083195-5083196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2445339	chr11:5083207-5083208	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2445340	chr11:5083225-5083226	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539013761	chr11:5083242-5083243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs71853734	chr11:5083251-5083252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34806166	chr11:5083252-5083253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553443473	chr11:5083253-5083254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs398114977	chr11:5083254-5083255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554214265	chr11:5083263-5083264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2445341	chr11:5083281-5083282	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180681858	chr11:5083287-5083288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2445342	chr11:5083289-5083290	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576688656	chr11:5083308-5083309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34283132	chr11:5083324-5083325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78729449	chr11:5083326-5083327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543578649	chr11:5083363-5083364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2445343	chr11:5083374-5083375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5084800-5085600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5085600-5086000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:5086000-5086200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:5086200-5093000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:5091000-5091400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:5092800-5093200	Enhancers	Adipose Nuclei	Adipose
7	chr11:5093000-5093400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:5093000-5093400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:5093000-5093400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:5093200-5093600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:5093600-5094200	Enhancers	Adipose Nuclei	Adipose
12	chr11:5098000-5098200	ZNF genes & repeats	Right Atrium	heart
13	chr11:5100200-5100800	Enhancers	Liver	Liver

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