Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81467255..81470490-chr14:81470537..81472087,4	K562	blood:

Variant related genes	Relation type
ENSG00000271705	Chromatin interaction
ENSG00000271656	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11850285	0.92[AMR][1000 genomes]
rs12185020	0.95[ASN][1000 genomes]
rs12323699	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2268462	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268463	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268464	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268465	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284725	0.88[AMR][1000 genomes]
rs2284728	0.88[AMR][1000 genomes]
rs2284729	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284731	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284732	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300520	0.92[AMR][1000 genomes]
rs34146411	0.95[ASN][1000 genomes]
rs3783944	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56169819	0.93[ASN][1000 genomes]
rs58729405	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59627467	0.88[AMR][1000 genomes]
rs67130762	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67256654	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67391693	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68104217	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149747	0.89[ASN][1000 genomes]
rs7149900	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7150082	0.84[EUR][1000 genomes]
rs7154106	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72689907	0.81[EUR][1000 genomes]
rs72689910	0.81[EUR][1000 genomes]
rs8007809	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917986	0.99[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
3	chr14:81468400-81472600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:81469400-81470800	Weak transcription	K562	blood
5	chr14:81470400-81477200	Weak transcription	Dnd41	blood

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