Variant report

Variant	nsv553221
Chromosome Location	chr11:5091882-5116128
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	ARID3A	chr11:5108595-5108795	K562	blood:	n/a	n/a
2	ATF1	chr11:5108569-5108812	K562	blood:	n/a	n/a
3	BHLHE40	chr11:5114577-5114619	K562	blood:	n/a	n/a
4	CCNT2	chr11:5108478-5108879	K562	blood:	n/a	n/a
5	CEBPB	chr11:5112783-5113015	A549	lung:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
6	CEBPB	chr11:5112719-5113020	HepG2	liver:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
7	CEBPB	chr11:5110956-5111233	IMR90	lung:	n/a	chr11:5111080-5111091 chr11:5111078-5111091 chr11:5111080-5111089
8	CEBPB	chr11:5106216-5106419	K562	blood:	n/a	chr11:5106344-5106357 chr11:5106344-5106357 chr11:5106346-5106357 chr11:5106344-5106357
9	CEBPB	chr11:5112740-5112973	K562	blood:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
10	CEBPB	chr11:5111014-5111221	K562	blood:	n/a	chr11:5111080-5111091 chr11:5111078-5111091 chr11:5111080-5111089
11	CEBPB	chr11:5109257-5109343	K562	blood:	n/a	n/a
12	CEBPB	chr11:5108761-5108784	K562	blood:	n/a	n/a
13	CEBPD	chr11:5108440-5108953	K562	blood:	n/a	n/a
14	CEBPD	chr11:5108435-5108905	K562	blood:	n/a	n/a
15	CTCF	chr11:5093200-5093350	RPTEC	kidney:	n/a	n/a
16	CTCF	chr11:5107528-5107600	Fibrobl	skin:	n/a	n/a
17	CTCF	chr11:5093160-5093310	HMEC	breast:	n/a	n/a
18	CTCF	chr11:5093220-5093370	RPTEC	kidney:	n/a	n/a
19	ELK1	chr11:5114428-5114497	Hela-S3	cervix:	n/a	n/a
20	EP300	chr11:5092591-5092600	GM12878	blood:	n/a	n/a
21	EP300	chr11:5108582-5108791	K562	blood:	n/a	n/a
22	FOS	chr11:5114569-5114719	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:5098941-5099205	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:5114519-5114803	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA2	chr11:5112375-5112630	K562	blood:	n/a	n/a
26	IRF3	chr11:5106714-5106752	GM12878	blood:	n/a	n/a
27	JUND	chr11:5108603-5108805	K562	blood:	n/a	n/a
28	MAFF	chr11:5102810-5102884	HepG2	liver:	n/a	n/a
29	MAFF	chr11:5108789-5108913	K562	blood:	n/a	n/a
30	MAFF	chr11:5104858-5105176	K562	blood:	n/a	chr11:5105024-5105042
31	MAFF	chr11:5104862-5105212	HepG2	liver:	n/a	chr11:5105024-5105042
32	MAFK	chr11:5104858-5105177	HepG2	liver:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
33	MAFK	chr11:5104847-5105228	HepG2	liver:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
34	MAFK	chr11:5102724-5102961	HepG2	liver:	n/a	n/a
35	MAFK	chr11:5108540-5108950	K562	blood:	n/a	n/a
36	MAFK	chr11:5102763-5102986	HepG2	liver:	n/a	n/a
37	MAFK	chr11:5104881-5105189	K562	blood:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
38	MAFK	chr11:5114401-5114423	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr11:5109753-5110002	HepG2	liver:	n/a	n/a
40	MAFK	chr11:5104858-5105186	IMR90	lung:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
41	MAFK	chr11:5104917-5105117	H1-hESC	embryonic stem cell:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
42	MAFK	chr11:5104859-5105144	Hela-S3	cervix:	n/a	chr11:5105029-5105040 chr11:5105030-5105041 chr11:5105025-5105040 chr11:5105030-5105041 chr11:5105029-5105040 chr11:5105025-5105041 chr11:5105028-5105042
43	MAFK	chr11:5102703-5102978	IMR90	lung:	n/a	n/a
44	MAX	chr11:5114486-5114743	K562	blood:	n/a	n/a
45	MAZ	chr11:5108575-5108775	K562	blood:	n/a	n/a
46	MAZ	chr11:5098112-5098113	Hela-S3	cervix:	n/a	n/a
47	MYC	chr11:5095107-5095170	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr11:5108526-5108825	K562	blood:	n/a	n/a
49	MYC	chr11:5114577-5114703	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:5109364-5109555	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5102660-5106360..11:5250847-5268367	Hela-S3	cervix:
2	11:5087036-5092291..11:5721056-5732713	K562	blood:
3	chr11:5107926..5109438-chr11:5115922..5117651,2	K562	blood:
4	11:5102660-5106360..11:5469844-5475173	H1-hESC	embryonic stem cell:	embryo
5	chr11:5107926..5109438-chr11:5115922..5117651,2	K562	blood:
6	chr11:5058379..5061279-chr11:5093640..5097390,3	K562	blood:
7	chr11:5106264..5108013-chr11:5110270..5111995,2	K562	blood:
8	11:5110510-5114921..11:5566274-5571131	Hela-S3	cervix:
9	chr11:4918642..4921294-chr11:5101983..5104188,2	K562	blood:
10	chr11:5106264..5108013-chr11:5110270..5111995,2	K562	blood:
11	chr11:5104003..5106355-chr11:5107356..5109322,2	K562	blood:
12	11:5093737-5099374..11:5533869-5541626	Hela-S3	cervix:
13	chr11:5104003..5106355-chr11:5107356..5109322,2	K562	blood:
14	11:5093737-5099374..11:5250847-5268367	Hela-S3	cervix:

Variant related genes	Relation type
OR52E3P	TF binding region
OR52S1P	TF binding region
ENSG00000132274	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000181616	chromatin interactions

Extended variants
information (count: 777 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:777 , 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	rs4144717	chr11:5091882-5091883	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191222599	chr11:5091908-5091909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75873181	chr11:5091918-5091919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78761083	chr11:5091921-5091922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114700383	chr11:5091935-5091936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533975778	chr11:5091962-5091963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555559009	chr11:5092004-5092005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574849481	chr11:5092012-5092013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535917532	chr11:5092050-5092051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557106543	chr11:5092075-5092076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575582970	chr11:5092077-5092078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2054140	chr11:5092087-5092088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528998557	chr11:5092199-5092200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564437752	chr11:5092232-5092233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573154078	chr11:5092243-5092244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540437792	chr11:5092246-5092247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145847005	chr11:5092291-5092292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182619322	chr11:5092338-5092339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186114786	chr11:5092350-5092351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565598557	chr11:5092363-5092364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201536657	chr11:5092365-5092366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5789361	chr11:5092366-5092367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397773958	chr11:5092375-5092376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192222542	chr11:5092377-5092378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116057554	chr11:5092386-5092387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377316362	chr11:5092395-5092396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6578549	chr11:5092396-5092397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113132427	chr11:5092400-5092401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536215943	chr11:5092410-5092411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566780980	chr11:5092442-5092443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76278555	chr11:5092447-5092448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549223617	chr11:5092448-5092449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183498972	chr11:5092456-5092457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552378749	chr11:5092462-5092463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77306121	chr11:5092540-5092541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2959187	chr11:5092560-5092561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs571452471	chr11:5092596-5092597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576060984	chr11:5092648-5092649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16909667	chr11:5092663-5092664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539450617	chr11:5092672-5092673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546726319	chr11:5092717-5092718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187977251	chr11:5092730-5092731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570794068	chr11:5092746-5092747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113212001	chr11:5092780-5092781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113964817	chr11:5092848-5092849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190492985	chr11:5092862-5092863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11396373	chr11:5092863-5092864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397738696	chr11:5092870-5092871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17268128	chr11:5092910-5092911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183061769	chr11:5092956-5092957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5086200-5093000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:5092800-5093200	Enhancers	Adipose Nuclei	Adipose
3	chr11:5093000-5093400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:5093000-5093400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr11:5093000-5093400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:5093200-5093600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr11:5093600-5094200	Enhancers	Adipose Nuclei	Adipose
8	chr11:5098000-5098200	ZNF genes & repeats	Right Atrium	heart
9	chr11:5100200-5100800	Enhancers	Liver	Liver
10	chr11:5108000-5108400	Enhancers	K562	blood
11	chr11:5108000-5108600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:5108200-5108400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:5108400-5108800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:5108400-5108800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:5108400-5109000	Flanking Active TSS	K562	blood
16	chr11:5108400-5109200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr11:5108600-5108800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:5108800-5109600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:5108800-5110000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:5109600-5110600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:5110000-5110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:5110400-5110600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:5113800-5114400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:5114000-5114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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