Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48465348..48467706-chr4:48469916..48472913,2	K562	blood:
2	chr4:48470613..48473605-chr4:48483199..48486711,3	K562	blood:

Variant related genes	Relation type
ENSG00000145248	Chromatin interaction

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

rs_ID	r²[population]
rs10517218	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13102023	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13105648	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13110633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13114836	0.86[EUR][1000 genomes]
rs13139251	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13139533	0.95[EUR][1000 genomes]
rs13145713	0.86[EUR][1000 genomes]
rs1565217	0.86[EUR][1000 genomes]
rs17472127	0.87[EUR][1000 genomes]
rs34380340	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34386102	0.95[EUR][1000 genomes]
rs34922671	0.95[EUR][1000 genomes]
rs35079648	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35963236	0.90[EUR][1000 genomes]
rs3811759	0.88[EUR][1000 genomes]
rs62311260	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6447639	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6811724	0.85[EUR][1000 genomes]
rs6821909	0.86[EUR][1000 genomes]
rs6824075	0.95[EUR][1000 genomes]
rs6824125	0.95[EUR][1000 genomes]
rs6844692	0.86[EUR][1000 genomes]
rs6845250	0.95[EUR][1000 genomes]
rs6847622	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs745761	0.86[EUR][1000 genomes]
rs7670045	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676578	0.95[EUR][1000 genomes]
rs7698564	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:48464400-48471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:48469800-48471600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:48469800-48471600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:48470000-48471600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:48470000-48474400	Weak transcription	Osteobl	bone

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