Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78868093..78870050-chr14:78874447..78876831,2	K562	blood:
2	chr14:78861659..78863872-chr14:78874003..78876017,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10135795	0.82[CEU][hapmap]
rs10431730	0.89[CHB][hapmap]
rs10483899	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs1112573	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11159355	0.83[EUR][1000 genomes]
rs11159356	0.83[ASN][1000 genomes]
rs11622679	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11625200	0.94[CHB][hapmap]
rs11625544	0.89[CHB][hapmap];0.81[TSI][hapmap]
rs12432856	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12589172	0.93[EUR][1000 genomes]
rs12883984	0.84[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs17829186	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1990531	0.89[CHB][hapmap]
rs34853774	0.86[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap]
rs4899711	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903752	0.97[EUR][1000 genomes]
rs4903768	0.89[CHB][hapmap]
rs60110504	0.81[ASN][1000 genomes]
rs7144427	0.82[ASW][hapmap]
rs7144816	0.81[AMR][1000 genomes]
rs7149016	0.82[ASW][hapmap]
rs72681525	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72681530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72681541	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8008709	0.82[CEU][hapmap]
rs8020842	0.83[ASN][1000 genomes]
rs986980	0.82[ASW][hapmap]

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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2757577	chr14:78875607-78912967	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17755949	HEATR4	cis	parietal	SCAN
rs17755949	HEATR4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78873400-78880600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:78873400-78881400	Weak transcription	Brain Anterior Caudate	brain
3	chr14:78873600-78876600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:78873600-78880600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:78874200-78876600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:78874200-78881000	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:78875200-78878000	Weak transcription	GM12878-XiMat	blood

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