Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:227506125..227508936-chr1:227583007..227585460,2	K562	blood:
2	chr1:227583675..227585639-chr1:227602382..227605024,2	K562	blood:
3	chr1:227573402..227580584-chr1:227581981..227587587,10	K562	blood:
4	chr1:227583443..227586949-chr1:227620291..227624641,4	K562	blood:
5	chr1:227567329..227569359-chr1:227583309..227586812,3	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction
ENSG00000224834	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10082258	0.82[EUR][1000 genomes]
rs10916131	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3000778	0.83[EUR][1000 genomes]
rs3000779	0.83[EUR][1000 genomes]
rs3000781	0.82[EUR][1000 genomes]
rs3000782	0.83[EUR][1000 genomes]
rs3000783	0.83[EUR][1000 genomes]
rs3000784	0.83[EUR][1000 genomes]
rs3000785	0.82[EUR][1000 genomes]
rs3000786	0.82[EUR][1000 genomes]
rs3000787	0.82[EUR][1000 genomes]
rs3000788	0.81[EUR][1000 genomes]
rs3000792	0.82[EUR][1000 genomes]
rs3000804	0.86[EUR][1000 genomes]
rs3000810	0.86[EUR][1000 genomes]
rs3000811	0.84[EUR][1000 genomes]
rs3014273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3014275	0.84[EUR][1000 genomes]
rs3014278	0.84[EUR][1000 genomes]
rs3014287	0.83[EUR][1000 genomes]
rs3014288	0.81[EUR][1000 genomes]
rs3014290	0.83[EUR][1000 genomes]
rs3014291	0.82[EUR][1000 genomes]
rs3122561	0.82[EUR][1000 genomes]
rs3125124	0.84[EUR][1000 genomes]
rs4521965	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653833	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6697269	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6699969	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv873243	chr1:227581017-227617519	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227576800-227584600	Weak transcription	A549	lung
2	chr1:227580200-227585000	Weak transcription	HUVEC	blood vessel
3	chr1:227583600-227584800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:227583600-227585400	Enhancers	Stomach Mucosa	stomach
5	chr1:227583600-227585400	Flanking Active TSS	K562	blood
6	chr1:227583800-227584400	Enhancers	HMEC	breast
7	chr1:227583800-227584600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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