Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:222627968-222629964	K562	blood:	n/a	chr1:222628911-222628924 chr1:222628932-222628945
2	RCOR1	chr1:222629609-222629866	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222628680..222632014-chr1:222636093..222640238,5	K562	blood:

Variant related genes	Relation type
ENSG00000226643	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11581653	0.86[ASN][1000 genomes]
rs11589561	1.00[ASN][1000 genomes]
rs11591051	1.00[ASN][1000 genomes]
rs1386580	1.00[ASN][1000 genomes]
rs17461834	1.00[ASN][1000 genomes]
rs17462264	1.00[ASN][1000 genomes]
rs1906271	1.00[ASN][1000 genomes]
rs1906273	1.00[ASN][1000 genomes]
rs35052617	1.00[ASN][1000 genomes]
rs35061493	1.00[ASN][1000 genomes]
rs35077442	1.00[ASN][1000 genomes]
rs35784999	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35844598	1.00[ASN][1000 genomes]
rs4573528	0.83[ASN][1000 genomes]
rs67867153	0.83[ASN][1000 genomes]
rs72734175	1.00[ASN][1000 genomes]
rs72734194	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765233	1.00[ASN][1000 genomes]
rs765308	1.00[ASN][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' 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
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222629000-222633600	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:222629200-222630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:222629400-222630000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:222629400-222630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:222629800-222630400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:222629800-222632600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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