Variant report

Variant	rs592416
Chromosome Location	chr11:63383718-63383719
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	CEBPB	chr11:63383471-63383808	IMR90	lung:	n/a	chr11:63383640-63383651
2	CEBPB	chr11:63383547-63383792	Hela-S3	cervix:	n/a	chr11:63383640-63383651
3	CEBPB	chr11:63383462-63383770	HepG2	liver:	n/a	chr11:63383640-63383651
4	CEBPB	chr11:63383488-63383791	A549	lung:	n/a	chr11:63383640-63383651
5	CEBPB	chr11:63383602-63383797	H1-hESC	embryonic stem cell:	n/a	chr11:63383640-63383651
6	CEBPB	chr11:63383468-63383828	K562	blood:	n/a	chr11:63383640-63383651

Variant related genes	Relation type
ENSG00000203520	TF binding region
PLA2G16	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11826418	1.00[EUR][1000 genomes]
rs2030727	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2030728	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2957207	1.00[MEX][hapmap]
rs558768	1.00[EUR][1000 genomes]
rs590570	0.87[AFR][1000 genomes]
rs59485568	1.00[EUR][1000 genomes]
rs60027303	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs615155	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs652233	0.85[ASW][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs663053	1.00[EUR][1000 genomes]
rs683904	1.00[EUR][1000 genomes]
rs684865	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7109362	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7935128	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv32927	chr11:63377277-63387923	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3359778	chr11:63381726-63384024	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63382000-63387600	Weak transcription	Stomach Mucosa	stomach
2	chr11:63382000-63398400	Weak transcription	Small Intestine	intestine
3	chr11:63382200-63388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:63382200-63396400	Weak transcription	Spleen	Spleen
5	chr11:63382400-63384400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:63382400-63384400	Weak transcription	HepG2	liver
7	chr11:63382400-63387600	Weak transcription	K562	blood
8	chr11:63382400-63387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:63382400-63388200	Weak transcription	Placenta	Placenta
10	chr11:63382400-63388200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:63382400-63388400	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:63382400-63389600	Weak transcription	A549	lung
13	chr11:63382400-63389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:63382400-63389800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:63382400-63389800	Weak transcription	Brain Anterior Caudate	brain
16	chr11:63382400-63389800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:63382400-63390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:63382400-63393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63382400-63394200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:63382400-63396400	Weak transcription	Left Ventricle	heart
21	chr11:63382400-63398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:63382400-63409800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:63383200-63387600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:63383600-63386400	Enhancers	Ovary	ovary

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