Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:103232129..103235431-chr7:103236152..103239545,4	K562	blood:
2	chr7:103218935..103220580-chr7:103231967..103234763,2	K562	blood:
3	chr7:103224194..103227224-chr7:103230117..103233349,3	K562	blood:

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

rs_ID	r²[population]
rs10487164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1860686	0.86[ASW][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2240965	0.84[YRI][hapmap]
rs2299338	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs362628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362672	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808027	0.84[TSI][hapmap]
rs41276151	1.00[ASN][1000 genomes]
rs493189	1.00[CHB][hapmap]
rs56041591	0.92[ASN][1000 genomes]
rs563264	1.00[CHD][hapmap]
rs56384750	1.00[ASN][1000 genomes]
rs631989	1.00[CHB][hapmap]
rs67423770	1.00[ASN][1000 genomes]
rs67811550	1.00[ASN][1000 genomes]
rs67823578	1.00[ASN][1000 genomes]
rs720078	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[YRI][hapmap];1.00[ASN][1000 genomes]
rs73177965	1.00[ASN][1000 genomes]
rs82878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997447	0.84[GIH][hapmap];0.82[LWK][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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs362631	UFSP1	cis	parietal	SCAN
rs362631	RINT1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103206000-103243400	Weak transcription	K562	blood
2	chr7:103230400-103246200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103232600-103234600	Strong transcription	HepG2	liver

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