Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:168328202..168331069-chr1:168335120..168337354,2	K562	blood:
2	chr1:168335359..168337795-chr1:168345574..168348326,2	K562	blood:
3	chr1:168334562..168336538-chr1:168357801..168359534,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489210	0.90[ASN][1000 genomes]
rs10800356	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10918873	0.88[ASN][1000 genomes]
rs12034832	0.85[ASN][1000 genomes]
rs12123087	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12128782	0.85[ASN][1000 genomes]
rs12136596	0.90[ASN][1000 genomes]
rs12403490	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12409703	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12566982	0.90[ASN][1000 genomes]
rs1569467	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16860447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977060	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2268556	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268559	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2268560	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2900726	0.88[ASN][1000 genomes]
rs4656583	0.89[ASN][1000 genomes]
rs6427127	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6670176	0.83[ASN][1000 genomes]
rs6697421	0.86[ASN][1000 genomes]
rs7532903	0.90[ASN][1000 genomes]
rs7555108	0.90[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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013200	chr1:168332730-168357759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs760685	SCYL3	cis	cerebellum	SCAN
rs760685	C1orf114	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168331200-168341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168333200-168340800	Weak transcription	Right Atrium	heart
3	chr1:168335000-168337000	Enhancers	HepG2	liver
4	chr1:168335800-168337200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:168336000-168337200	Weak transcription	K562	blood

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