Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90210175..90212075-chr5:90662640..90664980,2	K562	blood:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11741599	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13155267	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2367181	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28368305	0.96[ASN][1000 genomes]
rs3105793	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34088804	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35381887	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4916831	0.98[ASN][1000 genomes]
rs4916833	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57190680	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58729412	0.84[EUR][1000 genomes]
rs60873835	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61424527	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62374012	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6858917	0.89[ASN][1000 genomes]
rs6889986	0.96[ASN][1000 genomes]
rs6891672	0.85[EUR][1000 genomes];0.82[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90205000-90225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90205200-90217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:90205200-90219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:90207400-90212800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
8	chr5:90208200-90213400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:90208600-90217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90210600-90211600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:90210600-90211600	Enhancers	Liver	Liver
12	chr5:90210600-90211800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:90211200-90211400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:90211200-90211600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:90211200-90211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:90211200-90211600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:90211200-90211600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:90211200-90211600	Flanking Active TSS	HepG2	liver
19	chr5:90211200-90211800	Enhancers	Fetal Kidney	kidney
20	chr5:90211200-90211800	Flanking Active TSS	A549	lung

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