Variant report

Variant	esv2422503
Chromosome Location	chr11:5087292-5125991
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	chr11:5123194-5123558	K562	blood:	n/a	chr11:5123377-5123388 chr11:5123377-5123390
6	CEBPB	chr11:5088528-5088598	HepG2	liver:	n/a	chr11:5088550-5088563
7	CEBPB	chr11:5123255-5123518	A549	lung:	n/a	chr11:5123377-5123388 chr11:5123377-5123390
8	CEBPB	chr11:5112719-5113020	HepG2	liver:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
9	CEBPB	chr11:5112783-5113015	A549	lung:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
10	CEBPB	chr11:5123222-5123545	IMR90	lung:	n/a	chr11:5123377-5123388 chr11:5123377-5123390
11	CEBPB	chr11:5112740-5112973	K562	blood:	n/a	chr11:5112874-5112883 chr11:5112873-5112884 chr11:5112872-5112883
12	CEBPB	chr11:5123257-5123512	Hela-S3	cervix:	n/a	chr11:5123377-5123388 chr11:5123377-5123390
13	CEBPB	chr11:5109257-5109343	K562	blood:	n/a	n/a
14	CEBPB	chr11:5111014-5111221	K562	blood:	n/a	chr11:5111080-5111091 chr11:5111078-5111091 chr11:5111080-5111089
15	CEBPB	chr11:5108761-5108784	K562	blood:	n/a	n/a
16	CEBPB	chr11:5088539-5088587	A549	lung:	n/a	chr11:5088550-5088563
17	CEBPB	chr11:5123226-5123539	HepG2	liver:	n/a	chr11:5123377-5123388 chr11:5123377-5123390
18	CEBPB	chr11:5106216-5106419	K562	blood:	n/a	chr11:5106344-5106357 chr11:5106344-5106357 chr11:5106346-5106357 chr11:5106344-5106357
19	CEBPB	chr11:5110956-5111233	IMR90	lung:	n/a	chr11:5111080-5111091 chr11:5111078-5111091 chr11:5111080-5111089
20	CEBPD	chr11:5108440-5108953	K562	blood:	n/a	n/a
21	CEBPD	chr11:5108435-5108905	K562	blood:	n/a	n/a
22	CTCF	chr11:5125771-5125836	ProgFib	skin:	n/a	n/a
23	CTCF	chr11:5121800-5121950	NHLF	lung:	n/a	n/a
24	CTCF	chr11:5107528-5107600	Fibrobl	skin:	n/a	n/a
25	CTCF	chr11:5120484-5120533	ProgFib	skin:	n/a	n/a
26	CTCF	chr11:5121720-5121870	Caco-2	colon:	n/a	n/a
27	CTCF	chr11:5093200-5093350	RPTEC	kidney:	n/a	n/a
28	CTCF	chr11:5093160-5093310	HMEC	breast:	n/a	n/a
29	CTCF	chr11:5093220-5093370	RPTEC	kidney:	n/a	n/a
30	E2F4	chr11:5125256-5125391	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr11:5088080-5088171	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr11:5123863-5124021	MCF10A-Er-Src	breast:	n/a	n/a
33	ELK1	chr11:5114428-5114497	Hela-S3	cervix:	n/a	n/a
34	EP300	chr11:5108582-5108791	K562	blood:	n/a	n/a
35	EP300	chr11:5092591-5092600	GM12878	blood:	n/a	n/a
36	FOS	chr11:5114569-5114719	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr11:5098941-5099205	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:5125155-5125199	MCF10A-Er-Src	breast:	n/a	chr11:5125174-5125185 chr11:5125179-5125186 chr11:5125178-5125186 chr11:5125178-5125186
39	FOS	chr11:5114519-5114803	MCF10A-Er-Src	breast:	n/a	n/a
40	GATA2	chr11:5112375-5112630	K562	blood:	n/a	n/a
41	IRF3	chr11:5106714-5106752	GM12878	blood:	n/a	n/a
42	JUN	chr11:5117456-5117661	HepG2	liver:	n/a	chr11:5117562-5117575 chr11:5117588-5117602
43	JUND	chr11:5108603-5108805	K562	blood:	n/a	n/a
44	JUND	chr11:5117450-5117681	HepG2	liver:	n/a	chr11:5117588-5117602
45	KAP1	chr11:5123500-5123773	U2OS	brain:	n/a	n/a
46	MAFF	chr11:5102810-5102884	HepG2	liver:	n/a	n/a
47	MAFF	chr11:5117312-5117602	K562	blood:	n/a	n/a
48	MAFF	chr11:5104858-5105176	K562	blood:	n/a	chr11:5105024-5105042
49	MAFF	chr11:5117282-5117578	HepG2	liver:	n/a	n/a
50	MAFF	chr11:5104862-5105212	HepG2	liver:	n/a	chr11:5105024-5105042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5119128-5121895..11:5250847-5268367	H1-hESC	embryonic stem cell:	embryo
2	chr11:5058379..5061279-chr11:5093640..5097390,3	K562	blood:
3	chr11:5107926..5109438-chr11:5115922..5117651,2	K562	blood:
4	chr11:5107926..5109438-chr11:5115922..5117651,2	K562	blood:
5	chr11:5106264..5108013-chr11:5110270..5111995,2	K562	blood:
6	chr11:5106264..5108013-chr11:5110270..5111995,2	K562	blood:
7	chr11:5124860..5127812-chr11:5127932..5129451,2	K562	blood:
8	11:5093737-5099374..11:5533869-5541626	Hela-S3	cervix:
9	11:5102660-5106360..11:5469844-5475173	H1-hESC	embryonic stem cell:	embryo
10	chr11:5078947..5082286-chr11:5082776..5087870,5	K562	blood:
11	chr11:5125723..5127592-chr11:5130261..5133113,2	K562	blood:
12	11:5110510-5114921..11:5566274-5571131	Hela-S3	cervix:
13	chr11:4918642..4921294-chr11:5101983..5104188,2	K562	blood:
14	chr11:5104003..5106355-chr11:5107356..5109322,2	K562	blood:
15	chr11:5125985..5128240-chr11:5524056..5525592,2	K562	blood:
16	11:5087036-5092291..11:5721056-5732713	K562	blood:
17	11:5093737-5099374..11:5250847-5268367	Hela-S3	cervix:
18	chr11:5104003..5106355-chr11:5107356..5109322,2	K562	blood:
19	11:5102660-5106360..11:5250847-5268367	Hela-S3	cervix:
20	chr11:5075968..5078829-chr11:5086090..5088506,2	K562	blood:
21	11:5119128-5121895..11:5469844-5475173	H1-hESC	embryonic stem cell:	embryo
22	chr11:5117503..5120431-chr11:5123925..5125786,2	K562	blood:
23	11:5119128-5121895..11:5721056-5732713	K562	blood:

Variant related genes	Relation type
OR52E3P	TF binding region
OR52J1P	TF binding region
OR52S1P	TF binding region
OR52E1	TF binding region
ENSG00000273085	TF binding region
ENSG00000203560	chromatin interactions
ENSG00000187918	chromatin interactions
ENSG00000236897	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000176787	chromatin interactions
ENSG00000175518	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000223609	chromatin interactions

Extended variants
information (count: 1339 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369495878	chr11:5087297-5087298	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191914703	chr11:5087315-5087316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376862530	chr11:5087320-5087321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183720875	chr11:5087385-5087386	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs376295135	chr11:5087390-5087391	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs114250668	chr11:5087416-5087417	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs538098383	chr11:5087442-5087443	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs535777497	chr11:5087446-5087447	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs549725287	chr11:5087448-5087449	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs571392879	chr11:5087477-5087478	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs188390958	chr11:5087597-5087598	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558222921	chr11:5087611-5087612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572947181	chr11:5087672-5087673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1817207	chr11:5087712-5087713	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs149951522	chr11:5087714-5087715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143893139	chr11:5087743-5087744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529393097	chr11:5087795-5087796	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180945876	chr11:5087801-5087802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs578110180	chr11:5087890-5087891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187237752	chr11:5087891-5087892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560288561	chr11:5087914-5087915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148609254	chr11:5087918-5087919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549011126	chr11:5087946-5087947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560834262	chr11:5087949-5087950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543413580	chr11:5087952-5087953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190412065	chr11:5087969-5087970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2445309	chr11:5088009-5088010	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571387797	chr11:5088066-5088067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532331253	chr11:5088102-5088103	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547227974	chr11:5088132-5088133	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs566632645	chr11:5088239-5088240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577305424	chr11:5088273-5088274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546074993	chr11:5088276-5088277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555360538	chr11:5088287-5088288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1455962	chr11:5088292-5088293	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538186889	chr11:5088354-5088355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556803655	chr11:5088436-5088437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs578146449	chr11:5088443-5088444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545589590	chr11:5088478-5088479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6578548	chr11:5088494-5088495	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540997068	chr11:5088546-5088547	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142138023	chr11:5088548-5088549	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs560895691	chr11:5088578-5088579	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs147800541	chr11:5088588-5088589	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs543398884	chr11:5088629-5088630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181604583	chr11:5088637-5088638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562372048	chr11:5088648-5088649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532265111	chr11:5088721-5088722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375904131	chr11:5088738-5088739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs61880528	chr11:5088753-5088754	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:30 , 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	chr11:5091000-5091400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:5092800-5093200	Enhancers	Adipose Nuclei	Adipose
4	chr11:5093000-5093400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:5093000-5093400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:5093000-5093400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:5093200-5093600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:5093600-5094200	Enhancers	Adipose Nuclei	Adipose
9	chr11:5098000-5098200	ZNF genes & repeats	Right Atrium	heart
10	chr11:5100200-5100800	Enhancers	Liver	Liver
11	chr11:5108000-5108400	Enhancers	K562	blood
12	chr11:5108000-5108600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:5108200-5108400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:5108400-5108800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:5108400-5108800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:5108400-5109000	Flanking Active TSS	K562	blood
17	chr11:5108400-5109200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:5108600-5108800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:5108800-5109600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:5108800-5110000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:5109600-5110600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:5110000-5110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:5110400-5110600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:5113800-5114400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:5114000-5114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:5120600-5120800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:5120800-5123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:5123400-5123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:5123400-5124200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:5124200-5127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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