Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169543905..169545512-chr1:169548629..169550660,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10800457	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894697	0.87[ASN][1000 genomes]
rs1894698	0.87[ASN][1000 genomes]
rs1894699	0.87[ASN][1000 genomes]
rs1981491	0.87[ASN][1000 genomes]
rs2187955	0.90[ASN][1000 genomes]
rs2205896	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239853	0.87[ASN][1000 genomes]
rs3753305	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3917782	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3917783	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3917786	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656188	0.87[ASN][1000 genomes]
rs4656688	0.87[ASN][1000 genomes]
rs4656689	0.87[ASN][1000 genomes]
rs6127	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6427202	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670678	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678795	0.90[ASN][1000 genomes]
rs6685578	0.90[ASN][1000 genomes]
rs7540556	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7548857	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:169541600-169550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:169542000-169550400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:169542200-169554800	Weak transcription	Placenta	Placenta
5	chr1:169543800-169554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:169545400-169549800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:169548000-169550200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:169548400-169550200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:169548400-169550800	Genic enhancers	Liver	Liver
10	chr1:169549200-169551200	Genic enhancers	HepG2	liver

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