Variant report

Variant	rs540222457
Chromosome Location	chr11:75479649-75479650
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	POLR2A	chr11:75479365-75479974	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:75479204-75479991	SK-N-MC	brain:	n/a	n/a
3	RELA	chr11:75479092-75479901	GM19099	blood:	n/a	n/a
4	IRF1	chr11:75479003-75479902	K562	blood:	n/a	n/a
5	HMGN3	chr11:75479381-75480106	K562	blood:	n/a	n/a
6	JUND	chr11:75479360-75479838	A549	lung:	n/a	n/a
7	JUND	chr11:75478944-75479990	K562	blood:	n/a	n/a
8	MAX	chr11:75478921-75480697	HepG2	liver:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
9	MAX	chr11:75479212-75479957	H1-hESC	embryonic stem cell:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
10	TRIM28	chr11:75479037-75479992	K562	blood:	n/a	n/a
11	MAFF	chr11:75479518-75479749	K562	blood:	n/a	n/a
12	MAZ	chr11:75479170-75479983	GM12878	blood:	n/a	chr11:75479489-75479504
13	CEBPB	chr11:75479163-75480018	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr11:75478964-75479999	K562	blood:	n/a	chr11:75479489-75479504
15	SETDB1	chr11:75479002-75479906	U2OS	brain:	n/a	n/a
16	CREB1	chr11:75479143-75480055	GM12878	blood:	n/a	n/a
17	SMC3	chr11:75478967-75479996	Hela-S3	cervix:	n/a	n/a
18	EP300	chr11:75478963-75479944	K562	blood:	n/a	chr11:75479879-75479888 chr11:75479731-75479740
19	BRCA1	chr11:75479589-75479698	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:75479276-75480076	HepG2	liver:	n/a	n/a
21	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
22	FOXM1	chr11:75479235-75480090	GM12878	blood:	n/a	n/a
23	GATA1	chr11:75479043-75480138	PBDE	blood:	n/a	n/a
24	MAX	chr11:75478833-75480175	HCT-116	colon:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
25	CTBP2	chr11:75479377-75480657	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr11:75479613-75479686	GM12878	blood:	n/a	n/a
27	ELF1	chr11:75479602-75479810	HepG2	liver:	n/a	n/a
28	KAP1	chr11:75479102-75479897	HEK293	kidney:	n/a	n/a
29	ELK1	chr11:75479535-75479992	Hela-S3	cervix:	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	POLR2A	chr11:75479100-75480118	GM12878	blood:	n/a	n/a
33	MYC	chr11:75478914-75479991	K562	blood:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
34	EP300	chr11:75479409-75479818	GM12878	blood:	n/a	chr11:75479731-75479740
35	BHLHE40	chr11:75479298-75479916	A549	lung:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
36	TCF7L2	chr11:75479032-75480033	HCT-116	colon:	n/a	n/a
37	JUND	chr11:75479308-75479967	A549	lung:	n/a	n/a
38	ZEB1	chr11:75479347-75480088	GM12878	blood:	n/a	chr11:75479701-75479710
39	MYC	chr11:75479328-75479679	HUVEC	blood vessel:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
40	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
41	TCF7L2	chr11:75479556-75479852	MCF-7	breast:	n/a	n/a
42	RCOR1	chr11:75478950-75479941	HepG2	liver:	n/a	n/a
43	USF1	chr11:75479286-75479888	ECC-1	luminal epithelium:	n/a	n/a
44	MXI1	chr11:75479147-75480025	GM12878	blood:	n/a	n/a
45	JUND	chr11:75479490-75479683	HepG2	liver:	n/a	n/a
46	RAD21	chr11:75478964-75480110	HepG2	liver:	n/a	chr11:75479869-75479882
47	MAX	chr11:75479151-75480013	SK-N-SH	brain:	n/a	chr11:75479491-75479501 chr11:75479489-75479504
48	ZBTB7A	chr11:75479247-75480548	ECC-1	luminal epithelium:	n/a	chr11:75479350-75479361
49	SP1	chr11:75479173-75479997	A549	lung:	n/a	n/a
50	EP300	chr11:75479280-75480052	SK-N-SH	brain:	n/a	chr11:75479879-75479888 chr11:75479954-75479970 chr11:75479731-75479740

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	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
4	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP6-2	chr11:75479539-75479692	ENSG00000247867
2	lnc-MAP6-2	chr11:75479539-75479692	XLOC_009505

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000255507	Chromatin interaction
ENSG00000132646	Chromatin interaction
ENSG00000198382	Chromatin interaction
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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
2	chr11:75478400-75480000	Enhancers	Lung	lung
3	chr11:75479000-75480200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
5	chr11:75479000-75480200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
6	chr11:75479000-75480400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:75479000-75480400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr11:75479000-75480400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:75479000-75480600	Flanking Active TSS	Hela-S3	cervix
11	chr11:75479000-75480800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:75479000-75480800	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr11:75479000-75482600	Flanking Active TSS	Liver	Liver
14	chr11:75479200-75479800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:75479200-75479800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:75479200-75479800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:75479200-75480200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:75479200-75480200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
21	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:75479200-75480200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:75479200-75480200	Active TSS	Psoas Muscle	Psoas
25	chr11:75479200-75480400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:75479200-75480400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:75479200-75480400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:75479200-75480400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:75479200-75480400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:75479200-75480600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:75479200-75481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:75479400-75479800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:75479400-75479800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:75479400-75479800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:75479400-75479800	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr11:75479400-75479800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr11:75479400-75479800	Active TSS	Right Ventricle	heart
39	chr11:75479400-75479800	Bivalent/Poised TSS	HSMM	muscle
40	chr11:75479400-75480000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr11:75479400-75480000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:75479400-75480000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:75479400-75480000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:75479400-75480000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:75479400-75480000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:75479400-75480000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:75479400-75480000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:75479400-75480000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:75479400-75480000	Active TSS	Left Ventricle	heart
50	chr11:75479400-75480000	Active TSS	Rectal Mucosa Donor 31	rectum

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