Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173064653..173066712-chr2:173068939..173071306,2	MCF-7	breast:
2	chr2:173061279..173063058-chr2:173066457..173068997,2	K562	blood:

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

rs_ID	r²[population]
rs11893581	1.00[ASN][1000 genomes]
rs11898023	1.00[ASN][1000 genomes]
rs12991642	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005487	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13014155	1.00[ASN][1000 genomes]
rs13024942	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031965	1.00[ASN][1000 genomes]
rs33910987	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34238606	1.00[ASN][1000 genomes]
rs34267026	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34517309	1.00[ASN][1000 genomes]
rs35031958	1.00[ASN][1000 genomes]
rs35123448	1.00[ASN][1000 genomes]
rs35334306	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35434134	1.00[ASN][1000 genomes]
rs35768968	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35940741	1.00[ASN][1000 genomes]
rs36027698	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56789785	1.00[ASN][1000 genomes]
rs67130328	1.00[ASN][1000 genomes]
rs6723339	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751665	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759270	0.85[EUR][1000 genomes]
rs9749973	0.85[AMR][1000 genomes];0.89[EUR][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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17219125	OLA1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173065200-173069000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:173065200-173069000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:173065400-173067000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:173065400-173069000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:173065400-173072600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:173065400-173073600	Weak transcription	NHEK	skin

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