Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:212300211..212302596-chr2:212303627..212305384,3	MCF-7	breast:
2	chr2:212290669..212293299-chr2:212299523..212302386,3	MCF-7	breast:
3	chr2:212293615..212295597-chr2:212299966..212301687,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16825005	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16825008	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16846100	0.85[AMR][1000 genomes]
rs16846127	0.87[ASN][1000 genomes]
rs16846128	0.87[ASN][1000 genomes]
rs16846133	0.87[ASN][1000 genomes]
rs16846136	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16846140	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1836716	0.88[ASN][1000 genomes]
rs1836717	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2033647	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791702	0.88[ASN][1000 genomes]
rs3791704	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3791706	0.87[ASN][1000 genomes]
rs3791707	0.87[ASN][1000 genomes]
rs3791708	0.87[ASN][1000 genomes]
rs3791709	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3791710	0.86[ASN][1000 genomes]
rs4673616	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4673617	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55901919	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6435622	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73985439	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7591494	0.85[AMR][1000 genomes];0.84[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	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875778	chr2:212297838-212360994	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212281600-212301200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212288200-212302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212300000-212301400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:212300800-212301200	Enhancers	Aorta	Aorta

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