Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12097298..12099065-chr2:12103838..12105427,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10197022	0.81[ASN][1000 genomes]
rs10460294	0.84[EUR][1000 genomes]
rs10929774	0.81[EUR][1000 genomes]
rs11694407	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11695533	0.88[AMR][1000 genomes]
rs11891008	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12692449	0.85[ASN][1000 genomes]
rs12989918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992621	0.82[ASN][1000 genomes]
rs13003327	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13003710	0.88[AMR][1000 genomes]
rs13011455	0.82[AMR][1000 genomes]
rs13015144	0.88[AMR][1000 genomes]
rs13016049	0.82[ASN][1000 genomes]
rs13019206	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13020034	0.82[AMR][1000 genomes]
rs13034603	0.81[ASN][1000 genomes]
rs1595807	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2033873	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4669792	0.83[AMR][1000 genomes]
rs6712004	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7575078	0.80[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12101800-12104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:12102000-12105800	Weak transcription	GM12878-XiMat	blood
3	chr2:12102200-12107000	Weak transcription	Fetal Lung	lung
4	chr2:12102600-12105000	Enhancers	Colon Smooth Muscle	Colon
5	chr2:12103200-12108000	Weak transcription	Left Ventricle	heart
6	chr2:12103200-12108000	Weak transcription	Right Atrium	heart
7	chr2:12103800-12104400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:12103800-12104400	Enhancers	HMEC	breast
9	chr2:12104000-12104400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:12104000-12104400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:12104000-12104400	Enhancers	NHEK	skin
12	chr2:12104000-12106200	Weak transcription	K562	blood
13	chr2:12104200-12104400	Enhancers	H9 Cell Line	embryonic stem cell

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