Variant report

Variant	rs527966236
Chromosome Location	chr11:45167356-45167357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr11:45167221-45167949	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:45167117-45167532	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:45167280-45167430	HBMEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
6	CHD2	chr11:45167121-45167431	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr11:45167005-45167853	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr11:45167137-45169216	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr11:45167142-45167377	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr11:45167055-45167438	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr11:45166837-45169302	H1-hESC	embryonic stem cell:	n/a	chr11:45167119-45167132
13	POLR2A	chr11:45167139-45167396	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr11:45167039-45167909	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:45165151-45169153	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr11:45167293-45167814	K562	blood:	n/a	n/a
17	POLR2A	chr11:45166623-45169330	Hela-S3	cervix:	n/a	n/a
18	MAZ	chr11:45167094-45169829	IMR90	lung:	n/a	n/a
19	RCOR1	chr11:45167323-45167574	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:45167037-45167557	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP1	chr11:45167039-45167525	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:45166912-45169431	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr11:45167309-45167895	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr11:45167131-45167489	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:45166729-45169606	Raji	blood:	n/a	n/a
26	POLR2A	chr11:45167009-45167886	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr11:45167137-45167436	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:45167075-45167492	HepG2	liver:	n/a	n/a
29	POLR2A	chr11:45167187-45167382	MCF-7	breast:	n/a	n/a
30	NFYB	chr11:45167166-45167366	K562	blood:	n/a	n/a
31	POLR2A	chr11:45167059-45168092	K562	blood:	n/a	n/a
32	GTF2F1	chr11:45167244-45167400	Hela-S3	cervix:	n/a	n/a
33	HCFC1	chr11:45166767-45169670	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr11:45167139-45170103	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45161924..45164749-chr11:45165739..45167752,2	MCF-7	breast:
2	chr11:44971020..44974752-chr11:45167266..45169322,3	MCF-7	breast:
3	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
4	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:

No data

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000157570	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000175274	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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3402611	chr11:45166876-45169824	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45166800-45167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:45166800-45167400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:45166800-45167400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:45166800-45167400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:45166800-45167400	Bivalent Enhancer	Brain Germinal Matrix	brain
6	chr11:45166800-45167400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:45166800-45167400	Bivalent Enhancer	Placenta	Placenta
8	chr11:45166800-45167400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr11:45166800-45167400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr11:45166800-45167600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:45166800-45167600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:45166800-45167600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr11:45166800-45167800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr11:45166800-45168200	Enhancers	Spleen	Spleen
15	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:45167000-45167400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr11:45167000-45167400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr11:45167000-45167400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr11:45167000-45167400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr11:45167000-45167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:45167000-45167400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:45167000-45167400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:45167000-45167400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:45167000-45167400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:45167000-45167400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:45167000-45167400	Bivalent Enhancer	Fetal Brain Male	brain
27	chr11:45167000-45167400	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr11:45167000-45167400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:45167000-45167400	Bivalent Enhancer	Fetal Thymus	thymus
30	chr11:45167000-45167400	Enhancers	Left Ventricle	heart
31	chr11:45167000-45167400	Enhancers	Pancreas	Pancrea
32	chr11:45167000-45167400	Enhancers	Psoas Muscle	Psoas
33	chr11:45167000-45167400	Bivalent Enhancer	HUVEC	blood vessel
34	chr11:45167000-45167400	Bivalent Enhancer	NHLF	lung
35	chr11:45167000-45167600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:45167000-45167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:45167000-45167600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:45167000-45167600	Enhancers	Ovary	ovary
39	chr11:45167000-45167600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:45167000-45167600	Enhancers	Small Intestine	intestine
41	chr11:45167000-45167800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:45167000-45167800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:45167000-45167800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:45167000-45167800	Enhancers	Gastric	stomach
45	chr11:45167000-45168000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:45167000-45168000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:45167200-45167400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:45167200-45167400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:45167200-45167400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr11:45167200-45167400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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