Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr6:79574704-79575069	K562	blood:	n/a	chr6:79574878-79574896
2	MAFF	chr6:79574778-79575009	HepG2	liver:	n/a	chr6:79574878-79574896
3	MAFK	chr6:79574734-79575064	HepG2	liver:	n/a	chr6:79574880-79574895
4	MAFK	chr6:79574769-79575080	K562	blood:	n/a	chr6:79574880-79574895
5	MAFK	chr6:79574761-79575044	IMR90	lung:	n/a	chr6:79574880-79574895
6	MAFK	chr6:79574782-79575018	HepG2	liver:	n/a	chr6:79574880-79574895

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79568772..79571138-chr6:79573163..79575541,2	K562	blood:
2	chr6:79572341..79575161-chr6:79575433..79577660,3	K562	blood:

Variant related genes	Relation type
IRAK1BP1	TF binding region
ENSG00000146243	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35686657	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55682143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55786726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55991415	1.00[EUR][1000 genomes]
rs56735945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57023887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58284219	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60132767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61649774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917206	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462296	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73474280	1.00[EUR][1000 genomes]
rs73764046	1.00[AMR][1000 genomes]
rs73764052	1.00[AMR][1000 genomes]
rs73764092	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv970379	chr6:79571879-79578296	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79555800-79576400	Weak transcription	Left Ventricle	heart
2	chr6:79563000-79576200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:79564200-79576200	Weak transcription	Right Ventricle	heart
4	chr6:79566200-79576400	Weak transcription	Gastric	stomach
5	chr6:79568800-79576400	Weak transcription	Pancreas	Pancrea
6	chr6:79569800-79576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:79571600-79576400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:79573000-79576400	Weak transcription	Primary B cells from cord blood	blood
9	chr6:79573600-79576400	Weak transcription	Small Intestine	intestine
10	chr6:79574600-79578400	Active TSS	K562	blood
11	chr6:79574800-79575000	Enhancers	Brain Anterior Caudate	brain

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