Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:54424494-54424634	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000254204	TF binding region

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10097151	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10100538	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11784703	0.81[EUR][1000 genomes]
rs13271231	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477952	0.82[EUR][1000 genomes]
rs1477953	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477954	0.81[EUR][1000 genomes]
rs1477958	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1531520	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1551909	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2889303	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873253	0.83[EUR][1000 genomes]
rs4873254	0.83[EUR][1000 genomes]
rs4873751	0.82[EUR][1000 genomes]
rs4873752	0.84[EUR][1000 genomes]
rs4873753	0.84[EUR][1000 genomes]
rs4873754	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873755	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873756	0.82[ASN][1000 genomes]
rs6991456	0.91[ASN][1000 genomes]
rs6995863	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7013700	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643478	0.90[ASN][1000 genomes]
rs9657156	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9657157	0.90[ASN][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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3892	RP11-1081M5.1	cis	Artery Aorta	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54409600-54426600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:54416800-54426600	Weak transcription	Right Ventricle	heart
4	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
5	chr8:54419800-54426000	Weak transcription	HSMM	muscle
6	chr8:54421200-54427400	Enhancers	Fetal Heart	heart
7	chr8:54421800-54434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54422000-54426000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:54422800-54434800	Weak transcription	Esophagus	oesophagus
10	chr8:54423200-54426600	Weak transcription	NHEK	skin
11	chr8:54423200-54426800	Weak transcription	HMEC	breast
12	chr8:54423400-54426800	Weak transcription	Aorta	Aorta
13	chr8:54423400-54426800	Weak transcription	Left Ventricle	heart
14	chr8:54424000-54427000	Weak transcription	Ovary	ovary
15	chr8:54424000-54428400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54424400-54425000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:54424600-54424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:54424600-54425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:54424600-54425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:54424600-54425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

Quick Search: