Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136617985..136620690-chr7:136621141..136623827,2	K562	blood:

Variant related genes	Relation type
ENSG00000223657	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10225215	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10228048	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs10267979	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488599	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10488600	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1111418	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1364407	0.82[CHB][hapmap];0.93[CHD][hapmap]
rs1364408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1364409	0.82[CHB][hapmap]
rs1424546	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs17168815	0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs17168819	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2350782	0.84[JPT][hapmap]
rs4475425	0.84[JPT][hapmap]
rs58394792	0.98[ASN][1000 genomes]
rs6943656	0.89[JPT][hapmap]
rs6945736	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs6969811	0.89[JPT][hapmap]
rs73158732	0.91[ASN][1000 genomes]
rs73158742	1.00[ASN][1000 genomes]
rs73158743	1.00[ASN][1000 genomes]
rs73158749	0.98[ASN][1000 genomes]
rs73158750	0.98[ASN][1000 genomes]
rs7777727	0.89[JPT][hapmap]
rs7782965	0.82[CHB][hapmap]
rs7800170	0.92[YRI][hapmap]
rs960677	0.86[CHB][hapmap];0.95[JPT][hapmap]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7806357	MKRN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136607800-136638000	Weak transcription	NHLF	lung
2	chr7:136610800-136623400	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:136611000-136623200	Weak transcription	Left Ventricle	heart
4	chr7:136616600-136622600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:136617000-136620600	Weak transcription	Fetal Heart	heart

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