Variant report

Variant	esv3445980
Chromosome Location	chr11:56723866-56748461
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	CTCF	chr11:56726596-56726641	GM10248	blood:	n/a	n/a
2	CTCF	chr11:56729146-56729187	Kidney_OC	kidney:	n/a	n/a
3	IRF1	chr11:56746422-56746432	K562	blood:	n/a	n/a
4	MAFF	chr11:56729126-56729420	HepG2	liver:	n/a	chr11:56729264-56729282
5	MAFK	chr11:56729236-56729458	K562	blood:	n/a	chr11:56729266-56729281
6	MAFK	chr11:56729140-56729448	HepG2	liver:	n/a	chr11:56729266-56729281
7	MAFK	chr11:56729155-56729398	Hela-S3	cervix:	n/a	chr11:56729266-56729281
8	MAFK	chr11:56735694-56735717	HepG2	liver:	n/a	n/a
9	MAFK	chr11:56729106-56729449	HepG2	liver:	n/a	chr11:56729266-56729281
10	MAFK	chr11:56729122-56729448	IMR90	lung:	n/a	chr11:56729266-56729281
11	MAX	chr11:56730124-56730269	NB4	blood:	n/a	chr11:56730126-56730136
12	MYC	chr11:56734952-56734997	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:56736362-56736697	Gliobla	brain:	n/a	n/a
14	POLR2A	chr11:56747351-56747376	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:56740039-56740214	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:56736382-56736425	A549	lung:	n/a	n/a
17	POLR2A	chr11:56741857-56742012	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:56736291-56736326	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:56736716-56736784	Gliobla	brain:	n/a	n/a
20	POLR2A	chr11:56746589-56746677	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:56737437-56737490	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:56744553-56744753	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:56736690-56736698	A549	lung:	n/a	n/a
24	POLR2A	chr11:56727592-56727666	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:56738517-56738972	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:56736220-56736283	Gliobla	brain:	n/a	n/a
27	POLR2A	chr11:56725138-56725240	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:56736341-56736358	Gliobla	brain:	n/a	n/a
29	POLR2A	chr11:56736798-56736820	A549	lung:	n/a	n/a
30	SPI1	chr11:56746502-56746793	HL-60	blood:	n/a	chr11:56746575-56746584 chr11:56746572-56746585 chr11:56746576-56746583 chr11:56746573-56746586
31	STAT3	chr11:56748327-56748465	MCF10A-Er-Src	breast:	n/a	chr11:56748339-56748350
32	STAT3	chr11:56740658-56740773	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:56745274-56745336	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr11:56743316-56743531	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr11:56724098-56724565	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr11:56727379-56727539	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56728699..56729199-chr12:122984833..122985494,2	Hela-S3	cervix:

Variant related genes	Relation type
OR5AK3P	TF binding region
ENSG00000033030	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180689323	chr11:56723875-56723876	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148949958	chr11:56723882-56723883	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539539072	chr11:56723890-56723891	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187460337	chr11:56723891-56723892	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117790387	chr11:56723923-56723924	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561323911	chr11:56723945-56723946	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531978637	chr11:56723959-56723960	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550198157	chr11:56723969-56723970	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565610236	chr11:56723987-56723988	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532122643	chr11:56724004-56724005	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73466504	chr11:56724010-56724011	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143784179	chr11:56724064-56724065	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138470830	chr11:56724080-56724081	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs57532445	chr11:56724122-56724123	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569749733	chr11:56724139-56724140	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144147564	chr11:56724155-56724156	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558560056	chr11:56724159-56724160	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146879435	chr11:56724166-56724167	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538611798	chr11:56724192-56724193	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553946477	chr11:56724199-56724200	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117410018	chr11:56724200-56724201	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs1793459	chr11:56728424-56728425	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117679391	chr11:56728430-56728431	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs7938560	chr11:56728435-56728436	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201608989	chr11:56728461-56728462	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs371378314	chr11:56728469-56728470	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs545249426	chr11:56728473-56728474	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs183192063	chr11:56728489-56728490	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs552004959	chr11:56728498-56728499	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs572264944	chr11:56728500-56728501	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs186152439	chr11:56728546-56728547	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs189680146	chr11:56728547-56728548	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs183277573	chr11:56728548-56728549	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs187551862	chr11:56728551-56728552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs376589603	chr11:56728576-56728577	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs188571006	chr11:56728702-56728703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375153818	chr11:56728714-56728715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567150185	chr11:56728734-56728735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192797288	chr11:56728743-56728744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149001278	chr11:56728778-56728779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143045202	chr11:56728842-56728843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538801543	chr11:56728866-56728867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184848912	chr11:56728971-56728972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559185552	chr11:56729052-56729053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572257215	chr11:56729054-56729055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148190674	chr11:56729058-56729059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528036018	chr11:56729073-56729074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554889739	chr11:56729089-56729090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141228622	chr11:56729168-56729169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369475804	chr11:56729177-56729178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56723600-56724200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:56723600-56724200	Active TSS	A549	lung
3	chr11:56723800-56724000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:56723800-56724200	Enhancers	Right Atrium	heart
5	chr11:56728400-56728600	Bivalent Enhancer	Aorta	Aorta
6	chr11:56735800-56736400	Enhancers	Stomach Mucosa	stomach
7	chr11:56735800-56736600	Enhancers	Esophagus	oesophagus
8	chr11:56736000-56736400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:56736000-56736600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:56736000-56736600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:56736000-56736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:56736200-56737000	Enhancers	HMEC	breast
13	chr11:56744800-56746800	Enhancers	Stomach Mucosa	stomach
14	chr11:56748200-56748400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:56748200-56748400	Bivalent Enhancer	Liver	Liver
16	chr11:56748200-56748400	Active TSS	HMEC	breast
17	chr11:56748200-56748400	Active TSS	NHEK	skin
18	chr11:56748200-56748600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:56748200-56748600	Active TSS	Adipose Nuclei	Adipose
20	chr11:56748200-56748600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:56748200-56748600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:56748200-56748600	Active TSS	Right Atrium	heart
23	chr11:56748200-56748800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:56748200-56748800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:56748200-56748800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:56748200-56748800	Active TSS	A549	lung
27	chr11:56748400-56748600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:56748400-56748600	Flanking Active TSS	NHEK	skin
29	chr11:56748400-56748800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:56748400-56748800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:56748400-56748800	Flanking Active TSS	HMEC	breast

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