Variant report

Variant	esv3412690
Chromosome Location	chr11:66226776-66229524
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	BHLHE40	chr11:66226644-66227065	GM12878	blood:	n/a	n/a
2	EBF1	chr11:66226501-66226938	GM12878	blood:	n/a	chr11:66226704-66226715
3	EBF1	chr11:66226481-66227056	GM12878	blood:	n/a	chr11:66226704-66226715
4	EBF1	chr11:66226472-66226915	GM12878	blood:	n/a	chr11:66226704-66226715
5	EP300	chr11:66226578-66227107	GM12878	blood:	n/a	n/a
6	IKZF1	chr11:66226701-66227130	GM12878	blood:	n/a	n/a
7	MAFF	chr11:66227231-66227379	HepG2	liver:	n/a	chr11:66227248-66227266
8	MAFK	chr11:66227168-66227376	HepG2	liver:	n/a	n/a
9	MAX	chr11:66226823-66227145	GM12878	blood:	n/a	n/a
10	MAZ	chr11:66226626-66226954	GM12878	blood:	n/a	n/a
11	MXI1	chr11:66226754-66227041	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:66226920-66226972	GM12878	blood:	n/a	n/a
13	RCOR1	chr11:66226078-66226987	IMR90	lung:	n/a	n/a
14	RUNX3	chr11:66226557-66227040	GM12878	blood:	n/a	n/a
15	RUNX3	chr11:66226592-66226977	GM12878	blood:	n/a	n/a
16	SPI1	chr11:66226509-66226996	GM12891	blood:	n/a	chr11:66226783-66226792
17	SPI1	chr11:66226318-66227069	GM12878	blood:	n/a	chr11:66226783-66226792
18	SPI1	chr11:66226636-66226903	GM12878	blood:	n/a	chr11:66226783-66226792
19	SPI1	chr11:66226567-66226935	GM12891	blood:	n/a	chr11:66226783-66226792
20	TCF12	chr11:66226619-66227051	GM12878	blood:	n/a	n/a
21	WRNIP1	chr11:66226951-66227040	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66222014..66224882-chr11:66226511..66229218,2	K562	blood:
2	chr11:66224793..66227143-chr11:66233031..66235875,2	K562	blood:
3	chr11:66222024..66226628-chr11:66227285..66232511,5	MCF-7	breast:
4	chr11:66227701..66231174-chr11:66232754..66235721,4	K562	blood:

Variant related genes	Relation type
PELI3	TF binding region
ENSG00000174547	chromatin interactions
ENSG00000174516	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145564139	chr11:66226790-66226791	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562812148	chr11:66226816-66226817	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181575394	chr11:66226826-66226827	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370662145	chr11:66226855-66226856	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571378178	chr11:66226912-66226913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543970947	chr11:66226913-66226914	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544959726	chr11:66226943-66226944	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560843854	chr11:66226993-66226994	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375563239	chr11:66227044-66227045	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185329664	chr11:66227088-66227089	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538783054	chr11:66227120-66227121	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547402975	chr11:66227143-66227144	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1791687	chr11:66227184-66227185	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs372517386	chr11:66227216-66227217	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529816075	chr11:66227220-66227221	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549971393	chr11:66227393-66227394	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112893787	chr11:66227421-66227422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190217086	chr11:66227438-66227439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538749492	chr11:66227483-66227484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182513604	chr11:66227513-66227514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375544316	chr11:66227514-66227515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140164755	chr11:66227557-66227558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372097674	chr11:66227559-66227560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376729858	chr11:66227560-66227561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4930375	chr11:66227644-66227645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56063100	chr11:66227811-66227812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377120322	chr11:66227906-66227907	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369633664	chr11:66227909-66227910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373455460	chr11:66227910-66227911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376832494	chr11:66227916-66227917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534487086	chr11:66228009-66228010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554132684	chr11:66228046-66228047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574294425	chr11:66228071-66228072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528831231	chr11:66228126-66228127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552111580	chr11:66228138-66228139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs147632372	chr11:66228143-66228144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147293519	chr11:66228146-66228147	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77351801	chr11:66228160-66228161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565544045	chr11:66228163-66228164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs9795512	chr11:66228228-66228229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556346772	chr11:66228273-66228274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576118483	chr11:66228346-66228347	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs550317996	chr11:66228472-66228473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545144523	chr11:66228532-66228533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564914171	chr11:66228538-66228539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371763587	chr11:66228544-66228545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186250492	chr11:66228559-66228560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541431515	chr11:66228577-66228578	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111603431	chr11:66228583-66228584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560998679	chr11:66228609-66228610	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66219800-66233800	Weak transcription	Aorta	Aorta
2	chr11:66223600-66227600	Enhancers	Primary B cells from cord blood	blood
3	chr11:66223600-66227600	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:66223800-66232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:66224200-66226800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:66224800-66227600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:66226200-66227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:66226200-66227000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:66226200-66227000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:66226200-66227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:66226400-66227000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:66226400-66227400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:66226400-66227400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:66226600-66226800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:66226600-66227000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:66226600-66227000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:66226600-66227000	Enhancers	K562	blood
18	chr11:66226600-66227400	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:66226800-66227000	Enhancers	Stomach Smooth Muscle	stomach
20	chr11:66226800-66227200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:66226800-66227400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:66227000-66227400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:66227000-66233200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:66227200-66227400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:66227200-66233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:66227400-66229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:66227400-66229000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:66227400-66232400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:66227400-66232400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:66227600-66228800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:66227600-66229000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:66227600-66230400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:66228800-66230000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:66229000-66229600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:66229000-66230000	Enhancers	Primary B cells from cord blood	blood
36	chr11:66229000-66232200	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:66229200-66232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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