Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103172799..103178070-chr7:103178210..103181701,6	K562	blood:

Variant related genes	Relation type
ENSG00000189056	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11971447	0.97[EUR][1000 genomes]
rs2075044	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237623	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2299335	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28716995	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs362746	0.96[ASN][1000 genomes]
rs3779521	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3808032	1.00[AMR][1000 genomes]
rs3808034	0.83[AMR][1000 genomes]
rs3808048	0.85[AMR][1000 genomes]
rs4140931	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865436	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56331323	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56992010	0.87[EUR][1000 genomes]
rs60513369	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60546391	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73712397	0.85[AMR][1000 genomes]
rs73714431	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103158000-103198600	Weak transcription	Liver	Liver
2	chr7:103165000-103179200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:103168400-103181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:103170200-103180000	Weak transcription	K562	blood
5	chr7:103174000-103176000	Strong transcription	HepG2	liver
6	chr7:103174000-103176600	Weak transcription	Brain Anterior Caudate	brain
7	chr7:103174000-103177200	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:103174200-103179400	Weak transcription	Brain Angular Gyrus	brain
9	chr7:103174600-103177200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:103174800-103176800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:103174800-103177000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:103175200-103180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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