Variant report

Variant	rs2866197
Chromosome Location	chr4:101106316-101106317
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	chr4:101106118-101106375	HepG2	liver:	n/a	chr4:101106268-101106279
2	CEBPB	chr4:101106185-101106405	IMR90	lung:	n/a	chr4:101106268-101106279

Variant related genes	Relation type
ENSG00000249710	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11097692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11097700	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11734827	1.00[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12643004	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs3749604	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3765637	0.84[CEU][hapmap]
rs3819183	0.90[CEU][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3819184	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3819185	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6848005	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6856248	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686302	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688303	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688336	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830019	chr4:101023666-101208908	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2866197	EMCN	cis	cerebellum	SCAN
rs2866197	ADH6	cis	cerebellum	SCAN
rs2866197	MAPKSP1	cis	cerebellum	SCAN
rs2866197	MAPKSP1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101102400-101110000	Weak transcription	Ovary	ovary
2	chr4:101103600-101110200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:101103800-101111000	Weak transcription	Aorta	Aorta
4	chr4:101104000-101110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:101104600-101110000	Weak transcription	NHLF	lung
6	chr4:101105000-101107400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:101105400-101106600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:101105600-101106600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:101105600-101106800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:101105600-101110000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:101105800-101106400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:101105800-101106600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:101105800-101106600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:101106000-101107200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:101106200-101107200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:101106200-101108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:101106200-101108800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:101106200-101108800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:101106200-101110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:101106200-101110200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:101106200-101110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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