Variant report

Variant	rs146179144
Chromosome Location	chr11:75479135-75479136
allele	A/G
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	chr11:75479067-75479300	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
2	RELA	chr11:75479092-75479901	GM19099	blood:	n/a	n/a
3	IRF1	chr11:75479003-75479902	K562	blood:	n/a	n/a
4	JUND	chr11:75478944-75479990	K562	blood:	n/a	n/a
5	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
6	RAD21	chr11:75478945-75479347	A549	lung:	n/a	n/a
7	CTCF	chr11:75479080-75479230	HEK293	kidney:	n/a	chr11:75479164-75479174
8	TRIM28	chr11:75479037-75479992	K562	blood:	n/a	n/a
9	CTCF	chr11:75479100-75479250	GM12864	blood:	n/a	chr11:75479164-75479174
10	CTCF	chr11:75479000-75479150	GM12869	blood:	n/a	chr11:75479075-75479083
11	SMC3	chr11:75478925-75479509	HepG2	liver:	n/a	n/a
12	MAZ	chr11:75478964-75479999	K562	blood:	n/a	chr11:75479489-75479504
13	SETDB1	chr11:75479002-75479906	U2OS	brain:	n/a	n/a
14	SMC3	chr11:75478967-75479996	Hela-S3	cervix:	n/a	n/a
15	EP300	chr11:75478963-75479944	K562	blood:	n/a	chr11:75479879-75479888 chr11:75479731-75479740
16	CTCF	chr11:75479120-75479270	HMEC	breast:	n/a	chr11:75479164-75479174
17	CTCF	chr11:75479000-75479150	NHEK	skin:	n/a	chr11:75479075-75479083
18	CTCF	chr11:75478912-75479390	H1-hESC	embryonic stem cell:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
19	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
20	GATA1	chr11:75479043-75480138	PBDE	blood:	n/a	n/a
21	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
22	RAD21	chr11:75478982-75479406	GM12878	blood:	n/a	n/a
23	KAP1	chr11:75479102-75479897	HEK293	kidney:	n/a	n/a
24	MAX	chr11:75479001-75480076	MCF-7	breast:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
25	POLR2A	chr11:75479100-75480118	GM12878	blood:	n/a	n/a
26	MYC	chr11:75478914-75479991	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
27	CTCF	chr11:75479040-75479316	LNCaP	prostate:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
28	TCF7L2	chr11:75479032-75480033	HCT-116	colon:	n/a	n/a
29	CTCF	chr11:75479060-75479210	HMEC	breast:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
30	CTCF	chr11:75479120-75479270	HCFaa	heart:	n/a	chr11:75479164-75479174
31	CTCF	chr11:75479062-75479328	GM19240	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
32	CTCF	chr11:75479070-75479304	GM19239	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
33	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
34	RCOR1	chr11:75478950-75479941	HepG2	liver:	n/a	n/a
35	RAD21	chr11:75478964-75480110	HepG2	liver:	n/a	chr11:75479869-75479882
36	CTCF	chr11:75478994-75479338	A549	lung:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
37	RAD21	chr11:75478998-75479319	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:75479100-75479250	AG09309	skin:	n/a	chr11:75479164-75479174
39	CTCF	chr11:75479095-75479328	Medullo	brain:	n/a	chr11:75479164-75479174
40	CTCF	chr11:75479083-75479295	MCF-7	breast:	n/a	chr11:75479164-75479174
41	MAX	chr11:75479125-75480123	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
42	CTCF	chr11:75479046-75479328	MCF-7	breast:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
43	MAX	chr11:75479013-75480165	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
44	RAD21	chr11:75478952-75479458	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBL1XR1	chr11:75479031-75479847	K562	blood:	n/a	n/a
46	CTCF	chr11:75479087-75479277	GM13976	blood:	n/a	chr11:75479164-75479174
47	RAD21	chr11:75478807-75479551	HepG2	liver:	n/a	n/a
48	CTCF	chr11:75479062-75479322	GM10266	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
49	CTCF	chr11:75479120-75479270	NB4	blood:	n/a	chr11:75479164-75479174
50	CTCF	chr11:75479080-75479230	AG04450	lung:	n/a	chr11:75479164-75479174

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75475600-75479200	Weak transcription	HMEC	breast
2	chr11:75477000-75479200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:75477000-75479200	Enhancers	Adipose Nuclei	Adipose
4	chr11:75477800-75479200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:75477800-75479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:75477800-75479200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:75477800-75479400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:75478000-75479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
10	chr11:75478200-75479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:75478200-75479400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75478200-75479400	Enhancers	Spleen	Spleen
13	chr11:75478400-75479400	Enhancers	Left Ventricle	heart
14	chr11:75478400-75480000	Enhancers	Lung	lung
15	chr11:75478600-75479200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:75478600-75479200	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr11:75478800-75479200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr11:75478800-75479200	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:75478800-75479200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:75478800-75479200	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr11:75478800-75479200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr11:75478800-75479400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr11:75478800-75479400	Flanking Active TSS	HepG2	liver
24	chr11:75478800-75479600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:75479000-75479200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:75479000-75479200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:75479000-75479200	Enhancers	Primary T cells from cord blood	blood
28	chr11:75479000-75479200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:75479000-75479200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:75479000-75479200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
31	chr11:75479000-75479200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:75479000-75479200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:75479000-75479200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:75479000-75479200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:75479000-75479200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:75479000-75479200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:75479000-75479200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:75479000-75479200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr11:75479000-75479200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr11:75479000-75479200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
41	chr11:75479000-75479200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr11:75479000-75479200	Bivalent Enhancer	Fetal Kidney	kidney
43	chr11:75479000-75479200	Bivalent Enhancer	Fetal Lung	lung
44	chr11:75479000-75479200	Enhancers	Gastric	stomach
45	chr11:75479000-75479200	Enhancers	Right Atrium	heart
46	chr11:75479000-75479200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr11:75479000-75479200	Bivalent Enhancer	NHEK	skin
48	chr11:75479000-75479400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:75479000-75479400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:75479000-75479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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