Variant report

Variant	rs559611502
Chromosome Location	chr11:75478933-75478934
allele	C/T
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	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
2	SMC3	chr11:75478925-75479509	HepG2	liver:	n/a	n/a
3	CTCF	chr11:75478912-75479390	H1-hESC	embryonic stem cell:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
4	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
5	MYC	chr11:75478914-75479991	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
6	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
7	RFX5	chr11:75478928-75478940	HepG2	liver:	n/a	n/a
8	RAD21	chr11:75478807-75479551	HepG2	liver:	n/a	n/a
9	NR2F2	chr11:75478775-75479784	K562	blood:	n/a	n/a
10	RAD21	chr11:75478873-75479492	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:75478787-75480471	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
12	CBX3	chr11:75478834-75480012	K562	blood:	n/a	n/a
13	RAD21	chr11:75478926-75479404	Hela-S3	cervix:	n/a	n/a
14	RCOR1	chr11:75478838-75479996	K562	blood:	n/a	n/a
15	HCFC1	chr11:75478850-75480400	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr11:75478923-75480198	A549	lung:	n/a	chr11:75479893-75479900 chr11:75479703-75479710
17	CTCF	chr11:75478918-75479359	K562	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
18	RAD21	chr11:75478813-75480043	HepG2	liver:	n/a	chr11:75479869-75479882
19	MYBL2	chr11:75478883-75480230	HepG2	liver:	n/a	n/a
20	MBD4	chr11:75478894-75479696	HepG2	liver:	n/a	n/a
21	MTA3	chr11:75478796-75480416	GM12878	blood:	n/a	n/a
22	CTCF	chr11:75478868-75479582	MCF-7	breast:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
23	CTCF	chr11:75478847-75479393	HepG2	liver:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
24	ZNF143	chr11:75478906-75479142	H1-hESC	embryonic stem cell:	n/a	chr11:75479108-75479118
25	SREBP1	chr11:75478648-75480145	GM12878	blood:	n/a	n/a
26	MAX	chr11:75478900-75480070	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
27	ZNF143	chr11:75478886-75479947	K562	blood:	n/a	chr11:75479108-75479118 chr11:75479731-75479741
28	MAX	chr11:75478851-75480229	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
29	CBX3	chr11:75478815-75479647	K562	blood:	n/a	n/a
30	CREB1	chr11:75478884-75480131	HepG2	liver:	n/a	n/a
31	RCOR1	chr11:75478846-75479945	K562	blood:	n/a	n/a
32	PML	chr11:75478881-75480189	GM12878	blood:	n/a	n/a
33	E2F6	chr11:75477812-75480302	H1-hESC	embryonic stem cell:	n/a	chr11:75479823-75479833
34	CTCF	chr11:75478931-75480053	GM12878	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
35	MYBL2	chr11:75478909-75479920	HepG2	liver:	n/a	n/a
36	ARID3A	chr11:75478888-75479857	HepG2	liver:	n/a	n/a
37	RAD21	chr11:75478824-75479507	MCF-7	breast:	n/a	n/a
38	MAX	chr11:75478932-75480248	A549	lung:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
39	RAD21	chr11:75478929-75479376	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr11:75478902-75479413	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
2	chr11:75416987..75417519-chr11:75478728..75479439,2	MCF-7	breast:
3	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000254814	Chromatin interaction
ENSG00000062282	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360811	chr11:75478729-75481277	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75474800-75479000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:75475200-75479000	Weak transcription	Pancreas	Pancrea
3	chr11:75475600-75479200	Weak transcription	HMEC	breast
4	chr11:75477000-75479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:75477000-75479000	Enhancers	GM12878-XiMat	blood
6	chr11:75477000-75479200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:75477000-75479200	Enhancers	Adipose Nuclei	Adipose
8	chr11:75477400-75479000	Weak transcription	Gastric	stomach
9	chr11:75477600-75479000	Enhancers	K562	blood
10	chr11:75477800-75479000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:75477800-75479000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:75477800-75479200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:75477800-75479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:75477800-75479200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:75477800-75479400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:75478000-75479000	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:75478000-75479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
19	chr11:75478200-75479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:75478200-75479400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:75478200-75479400	Enhancers	Spleen	Spleen
22	chr11:75478400-75479000	Bivalent Enhancer	Colonic Mucosa	Colon
23	chr11:75478400-75479000	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:75478400-75479400	Enhancers	Left Ventricle	heart
25	chr11:75478400-75480000	Enhancers	Lung	lung
26	chr11:75478600-75479000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:75478600-75479000	Weak transcription	Right Atrium	heart
28	chr11:75478600-75479000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:75478600-75479200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:75478600-75479200	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr11:75478800-75479000	Enhancers	Primary B cells from cord blood	blood
32	chr11:75478800-75479000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:75478800-75479000	Enhancers	Liver	Liver
34	chr11:75478800-75479000	Enhancers	Brain Angular Gyrus	brain
35	chr11:75478800-75479000	Enhancers	Brain Hippocampus Middle	brain
36	chr11:75478800-75479000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr11:75478800-75479000	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr11:75478800-75479000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:75478800-75479000	Enhancers	Rectal Smooth Muscle	rectum
40	chr11:75478800-75479000	Enhancers	A549	lung
41	chr11:75478800-75479000	Enhancers	Hela-S3	cervix
42	chr11:75478800-75479200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr11:75478800-75479200	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:75478800-75479200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:75478800-75479200	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr11:75478800-75479200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr11:75478800-75479400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:75478800-75479400	Flanking Active TSS	HepG2	liver
49	chr11:75478800-75479600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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