Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:39745397..39755065-chr7:39757582..39762895,14	K562	blood:
2	chr7:39749808..39754234-chr7:39754271..39757500,4	K562	blood:
3	chr7:39747835..39755058-chr7:39757872..39764388,13	K562	blood:
4	chr7:39662003..39663516-chr7:39750474..39753240,2	K562	blood:
5	chr7:39747576..39749380-chr7:39750182..39752361,2	K562	blood:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

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

rs_ID	r²[population]
rs10236547	0.89[AMR][1000 genomes]
rs10252318	1.00[YRI][hapmap]
rs10486798	1.00[CEU][hapmap]
rs10486800	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11765134	1.00[YRI][hapmap]
rs11769907	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17416652	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17507685	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17507748	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329462	1.00[CEU][hapmap]
rs2329463	1.00[CEU][hapmap]
rs4723882	1.00[CEU][hapmap]
rs4723883	1.00[CEU][hapmap]
rs4723884	1.00[CEU][hapmap]
rs6462944	1.00[AFR][1000 genomes]
rs6462951	1.00[YRI][hapmap]
rs6968742	1.00[CEU][hapmap]
rs7777173	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7777339	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7796063	1.00[CEU][hapmap]
rs7807233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810999	1.00[AFR][1000 genomes];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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39741200-39753000	Weak transcription	Spleen	Spleen
2	chr7:39748200-39752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:39749000-39752800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:39750000-39753000	Weak transcription	Stomach Mucosa	stomach
5	chr7:39751600-39753000	Enhancers	Fetal Muscle Leg	muscle
6	chr7:39752200-39752400	Enhancers	Fetal Lung	lung
7	chr7:39752200-39752800	Enhancers	HUVEC	blood vessel
8	chr7:39752200-39753000	Enhancers	Fetal Stomach	stomach

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