Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175310956..175313945-chr1:175314774..175317372,3	K562	blood:

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

rs_ID	r²[population]
rs10489323	0.82[CEU][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs10912966	1.00[ASN][1000 genomes]
rs11800824	0.90[EUR][1000 genomes]
rs11800933	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806265	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12059155	0.93[EUR][1000 genomes]
rs16848188	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16848281	1.00[ASN][1000 genomes]
rs16848304	1.00[ASN][1000 genomes]
rs17304735	1.00[ASN][1000 genomes]
rs17375910	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376706	1.00[ASN][1000 genomes]
rs1989499	0.91[EUR][1000 genomes]
rs35604600	1.00[ASN][1000 genomes]
rs61391686	0.89[EUR][1000 genomes]
rs61805066	1.00[ASN][1000 genomes]
rs61806379	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806380	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61808381	1.00[ASN][1000 genomes]
rs6425350	1.00[ASN][1000 genomes]
rs6662518	1.00[ASN][1000 genomes]
rs726030	0.90[EUR][1000 genomes]
rs7513605	0.88[CEU][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7551235	0.88[EUR][1000 genomes]
rs7553041	0.90[EUR][1000 genomes]
rs875325	0.83[EUR][1000 genomes]
rs875326	0.82[EUR][1000 genomes]
rs9283389	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9286908	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16848218	DARS2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175283200-175320600	Weak transcription	Brain Germinal Matrix	brain
2	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:175308000-175322600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:175312000-175313200	Weak transcription	Liver	Liver
7	chr1:175312200-175324600	Weak transcription	Pancreas	Pancrea
8	chr1:175312800-175313400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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