Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76756249..76758422-chr4:76759669..76762600,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10856860	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097121	0.82[CHB][hapmap]
rs13434876	0.97[ASN][1000 genomes]
rs17000786	0.85[CHB][hapmap]
rs17000794	0.85[CHB][hapmap]
rs17000864	0.85[CHB][hapmap]
rs1876099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2062958	0.81[AMR][1000 genomes]
rs2089253	0.85[CHB][hapmap]
rs28501590	0.97[ASN][1000 genomes]
rs324686	0.85[CHB][hapmap]
rs324690	0.85[CHB][hapmap]
rs324693	0.85[CHB][hapmap]
rs324703	0.85[CHB][hapmap]
rs324714	0.85[CHB][hapmap]
rs324719	0.85[CHB][hapmap]
rs324723	0.85[CHB][hapmap]
rs324726	0.85[CHB][hapmap]
rs324727	0.85[CHB][hapmap]
rs324733	0.85[CHB][hapmap]
rs324735	0.85[CHB][hapmap]
rs324740	0.85[CHB][hapmap]
rs4262008	0.85[CHB][hapmap]
rs4412019	1.00[CEU][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57961226	0.84[ASN][1000 genomes]
rs6531959	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6531960	0.87[ASN][1000 genomes]
rs6832374	0.97[ASN][1000 genomes]
rs6837321	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6856162	0.85[CHB][hapmap]
rs7340822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7340823	0.95[ASN][1000 genomes]
rs7682494	0.97[ASN][1000 genomes]
rs7692052	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs924937	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7696758	CCNI	cis	cerebellum	SCAN
rs7696758	PPEF2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76743800-76764800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:76753400-76758600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:76753400-76762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:76754200-76762600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:76756200-76760200	Weak transcription	A549	lung
7	chr4:76756400-76764800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:76756600-76759200	Weak transcription	HepG2	liver

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