Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11050849	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050851	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050852	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12425538	0.83[CEU][hapmap]
rs1588008	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1588010	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1588012	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1827907	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1896909	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs354125	0.85[EUR][1000 genomes]
rs354131	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs354151	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4931322	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487903	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487904	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487905	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs725063	0.84[CEU][hapmap]
rs7303893	0.84[CEU][hapmap]
rs7304070	0.84[CEU][hapmap]
rs7309774	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972984	0.89[ASN][1000 genomes]

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	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10843731	C12orf35	cis	cerebellum	SCAN
rs10843731	HCK	trans	lymphoblastoid	seeQTL
rs10843731	MED21	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30510200-30511800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:30510200-30512400	Enhancers	Fetal Lung	lung
3	chr12:30510600-30512200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:30510800-30511200	Enhancers	Adipose Nuclei	Adipose
5	chr12:30510800-30511200	Enhancers	Fetal Stomach	stomach
6	chr12:30510800-30511400	Enhancers	Left Ventricle	heart
7	chr12:30510800-30511400	Enhancers	Lung	lung
8	chr12:30510800-30512000	Enhancers	Right Atrium	heart
9	chr12:30510800-30512400	Enhancers	Fetal Heart	heart

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