Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103120247..103122093-chr7:103122953..103125479,2	K562	blood:

Variant related genes	Relation type
ENSG00000189056	Chromatin interaction
ENSG00000222386	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10236350	1.00[ASN][1000 genomes]
rs10243283	0.81[ASN][1000 genomes]
rs12530735	1.00[JPT][hapmap]
rs12533510	1.00[JPT][hapmap]
rs12671505	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12672733	0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17143710	0.89[JPT][hapmap]
rs17151558	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17152191	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17152211	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152635	0.82[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2075039	0.82[CHD][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2079953	0.84[EUR][1000 genomes]
rs2535774	0.81[EUR][1000 genomes]
rs2711854	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28773866	1.00[ASN][1000 genomes]
rs2906637	0.89[JPT][hapmap]
rs3025933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs362762	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3808042	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41275233	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4286874	0.89[JPT][hapmap]
rs4470957	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588783	0.89[JPT][hapmap]
rs59613376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103103600-103121400	Weak transcription	HepG2	liver
2	chr7:103115800-103121200	Weak transcription	K562	blood
3	chr7:103118400-103138000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:103120000-103122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:103120000-103122200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:103120600-103122200	Weak transcription	Brain Anterior Caudate	brain

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