Variant report

Variant	rs3806820
Chromosome Location	chr4:110723567-110723568
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	MAFK	chr4:110723357-110723911	HepG2	liver:	n/a	chr4:110723724-110723739 chr4:110723725-110723736 chr4:110723724-110723735 chr4:110723725-110723736 chr4:110723724-110723735 chr4:110723723-110723737
2	MAFK	chr4:110722993-110723902	HepG2	liver:	n/a	chr4:110723724-110723739 chr4:110723725-110723736 chr4:110723724-110723735 chr4:110723725-110723736 chr4:110723724-110723735 chr4:110723723-110723737
3	MYBL2	chr4:110722835-110723855	HepG2	liver:	n/a	n/a
4	STAT3	chr4:110722883-110723683	MCF10A-Er-Src	breast:	n/a	n/a
5	NFIC	chr4:110722998-110723585	SK-N-SH	brain:	n/a	chr4:110723272-110723289 chr4:110723272-110723288
6	NFIC	chr4:110722851-110723619	HepG2	liver:	n/a	chr4:110723272-110723289 chr4:110723272-110723288
7	STAT3	chr4:110722719-110723804	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110721548..110724346-chr4:110736767..110738481,2	MCF-7	breast:
2	chr4:110621753..110625851-chr4:110723328..110725382,3	MCF-7	breast:
3	chr4:110621205..110625752-chr4:110723387..110726377,6	MCF-7	breast:

Variant related genes	Relation type
CFI	TF binding region
ENSG00000138794	Chromatin interaction
ENSG00000109534	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17538277	0.89[EUR][1000 genomes]
rs56877163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324925	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62324938	0.93[EUR][1000 genomes]
rs62324939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6533461	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110721400-110723600	Active TSS	Liver	Liver
2	chr4:110722400-110723800	Enhancers	Osteobl	bone
3	chr4:110722400-110724000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:110722400-110724400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:110722600-110724000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:110722600-110736200	Weak transcription	Pancreas	Pancrea
7	chr4:110722800-110724000	Enhancers	NHLF	lung
8	chr4:110722800-110735800	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:110723200-110723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:110723200-110723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:110723200-110724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:110723400-110723600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:110723400-110723600	Weak transcription	Adipose Nuclei	Adipose
14	chr4:110723400-110723600	Weak transcription	Ovary	ovary
15	chr4:110723400-110723800	Enhancers	Duodenum Mucosa	Duodenum
16	chr4:110723400-110723800	Weak transcription	Fetal Intestine Large	intestine
17	chr4:110723400-110723800	Flanking Active TSS	HepG2	liver
18	chr4:110723400-110724000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:110723400-110724000	Enhancers	Fetal Intestine Small	intestine
20	chr4:110723400-110724000	Enhancers	HUVEC	blood vessel
21	chr4:110723400-110724200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:110723400-110725600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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