Variant report

Variant	rs374566184
Chromosome Location	chr11:75479297-75479298
allele	G/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	POLR2A	chr11:75479204-75479991	SK-N-MC	brain:	n/a	n/a
2	CTCF	chr11:75479067-75479300	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
3	RELA	chr11:75479092-75479901	GM19099	blood:	n/a	n/a
4	IRF1	chr11:75479003-75479902	K562	blood:	n/a	n/a
5	JUND	chr11:75478944-75479990	K562	blood:	n/a	n/a
6	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
7	RAD21	chr11:75478945-75479347	A549	lung:	n/a	n/a
8	MAX	chr11:75479212-75479957	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
9	TRIM28	chr11:75479037-75479992	K562	blood:	n/a	n/a
10	MAZ	chr11:75479170-75479983	GM12878	blood:	n/a	chr11:75479489-75479504
11	CEBPB	chr11:75479163-75480018	Hela-S3	cervix:	n/a	n/a
12	SMC3	chr11:75478925-75479509	HepG2	liver:	n/a	n/a
13	MAZ	chr11:75478964-75479999	K562	blood:	n/a	chr11:75479489-75479504
14	SETDB1	chr11:75479002-75479906	U2OS	brain:	n/a	n/a
15	CREB1	chr11:75479143-75480055	GM12878	blood:	n/a	n/a
16	SMC3	chr11:75478967-75479996	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:75479200-75479350	GM06990	blood:	n/a	n/a
18	EP300	chr11:75478963-75479944	K562	blood:	n/a	chr11:75479879-75479888 chr11:75479731-75479740
19	POLR2A	chr11:75479276-75480076	HepG2	liver:	n/a	n/a
20	CTCF	chr11:75479220-75479370	MCF-7	breast:	n/a	n/a
21	USF1	chr11:75479213-75479610	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:75479280-75479430	GM12869	blood:	n/a	n/a
23	CTCF	chr11:75478912-75479390	H1-hESC	embryonic stem cell:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
24	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
25	FOXM1	chr11:75479235-75480090	GM12878	blood:	n/a	n/a
26	GATA1	chr11:75479043-75480138	PBDE	blood:	n/a	n/a
27	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
28	RAD21	chr11:75478982-75479406	GM12878	blood:	n/a	n/a
29	KAP1	chr11:75479102-75479897	HEK293	kidney:	n/a	n/a
30	CREB1	chr11:75479253-75480012	K562	blood:	n/a	n/a
31	MAX	chr11:75479001-75480076	MCF-7	breast:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
32	USF2	chr11:75479290-75479497	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:75479100-75480118	GM12878	blood:	n/a	n/a
34	MYC	chr11:75478914-75479991	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
35	CTCF	chr11:75479040-75479316	LNCaP	prostate:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
36	TCF7L2	chr11:75479032-75480033	HCT-116	colon:	n/a	n/a
37	CTCF	chr11:75479180-75479330	AG04449	skin:	n/a	n/a
38	CTCF	chr11:75479180-75479330	GM12873	blood:	n/a	n/a
39	RFX5	chr11:75479148-75479321	HepG2	liver:	n/a	n/a
40	CTCF	chr11:75479062-75479328	GM19240	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
41	CTCF	chr11:75479070-75479304	GM19239	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
42	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
43	RCOR1	chr11:75478950-75479941	HepG2	liver:	n/a	n/a
44	USF1	chr11:75479286-75479888	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr11:75479147-75480025	GM12878	blood:	n/a	n/a
46	RAD21	chr11:75478964-75480110	HepG2	liver:	n/a	chr11:75479869-75479882
47	CTCF	chr11:75478994-75479338	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
48	RAD21	chr11:75478998-75479319	SK-N-SH_RA	brain:	n/a	n/a
49	MAX	chr11:75479151-75480013	SK-N-SH	brain:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
50	ZBTB7A	chr11:75479247-75480548	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361

No.	Distal block	Cell Line	Cell type
1	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:
2	chr11:75479283..75479917-chr20:5100199..5101145,2	NB4	blood:
3	chr11:75416987..75417519-chr11:75478728..75479439,2	MCF-7	breast:
4	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000062282	Chromatin interaction
ENSG00000254814	Chromatin interaction
ENSG00000132646	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75477800-75479400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
3	chr11:75478200-75479400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:75478200-75479400	Enhancers	Spleen	Spleen
5	chr11:75478400-75479400	Enhancers	Left Ventricle	heart
6	chr11:75478400-75480000	Enhancers	Lung	lung
7	chr11:75478800-75479400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr11:75478800-75479400	Flanking Active TSS	HepG2	liver
9	chr11:75478800-75479600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:75479000-75479400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:75479000-75479400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:75479000-75479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:75479000-75479400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:75479000-75479400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:75479000-75479400	Enhancers	Aorta	Aorta
16	chr11:75479000-75479400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr11:75479000-75479400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr11:75479000-75479400	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr11:75479000-75479400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:75479000-75479400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:75479000-75479400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:75479000-75479400	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr11:75479000-75479400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
24	chr11:75479000-75479400	Enhancers	Esophagus	oesophagus
25	chr11:75479000-75479400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:75479000-75479400	Bivalent Enhancer	Placenta	Placenta
27	chr11:75479000-75479400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr11:75479000-75479400	Enhancers	Ovary	ovary
29	chr11:75479000-75479400	Enhancers	Pancreas	Pancrea
30	chr11:75479000-75479400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr11:75479000-75479400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:75479000-75479400	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr11:75479000-75479400	Flanking Active TSS	A549	lung
34	chr11:75479000-75479400	Enhancers	HUVEC	blood vessel
35	chr11:75479000-75479400	Bivalent Enhancer	NHDF-Ad	bronchial
36	chr11:75479000-75479600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:75479000-75479600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr11:75479000-75479600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr11:75479000-75479600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:75479000-75479600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:75479000-75479600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr11:75479000-75479600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:75479000-75479600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:75479000-75479600	Flanking Active TSS	GM12878-XiMat	blood
45	chr11:75479000-75479600	Flanking Active TSS	K562	blood
46	chr11:75479000-75479600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:75479000-75480200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr11:75479000-75480400	Flanking Active TSS	Primary B cells from cord blood	blood

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