Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:165600176..165602147-chr1:165685075..165687323,2	MCF-7	breast:
2	chr1:165684207..165686367-chr1:165693698..165695940,2	K562	blood:
3	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
4	chr1:165685865..165687619-chr1:165796541..165799023,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10800136	0.82[ASN][1000 genomes]
rs10800139	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10800147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800148	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800150	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10918258	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10918265	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12021643	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12021678	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12027066	0.95[ASN][1000 genomes]
rs12044709	0.95[ASN][1000 genomes]
rs12069379	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12143900	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3753894	0.91[ASN][1000 genomes]
rs4582768	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6699874	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72698092	0.95[ASN][1000 genomes]
rs72698094	0.95[ASN][1000 genomes]
rs72698097	0.95[ASN][1000 genomes]
rs7514969	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7537774	0.95[ASN][1000 genomes]
rs7549418	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7549509	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription 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	41 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	chr1:165684400-165687600	Enhancers	Liver	Liver
2	chr1:165685200-165686400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:165685200-165687600	Enhancers	HepG2	liver
4	chr1:165685200-165695400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:165685400-165687400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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