Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144548086..144549908-chr6:144553718..144555836,2	MCF-7	breast:
2	chr6:144546836..144549581-chr6:144552888..144555607,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1124956	0.83[EUR][1000 genomes]
rs12529594	0.84[EUR][1000 genomes]
rs12661628	0.91[CEU][hapmap]
rs12664476	0.82[CEU][hapmap]
rs1322451	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1535476	0.82[EUR][1000 genomes]
rs1547622	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1985845	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4895636	0.81[EUR][1000 genomes]
rs4896708	0.81[EUR][1000 genomes]
rs6570614	0.91[EUR][1000 genomes]
rs6570618	0.96[CEU][hapmap]
rs6904683	0.83[CEU][hapmap]
rs6930813	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs6941329	0.83[CEU][hapmap];0.82[GIH][hapmap]
rs7741762	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763017	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7767952	0.83[EUR][1000 genomes]
rs9376812	0.91[CEU][hapmap]
rs9376814	0.83[EUR][1000 genomes]
rs9390159	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9399474	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9403554	0.88[EUR][1000 genomes]
rs9403555	0.88[EUR][1000 genomes]
rs9403556	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403557	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1322450	GPR126	cis	parietal	SCAN
rs1322450	SASH1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144538200-144561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:144550800-144554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:144552600-144555600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:144553400-144556000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:144553600-144554800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:144553600-144555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:144553600-144555800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:144553600-144560800	Weak transcription	Right Atrium	heart
9	chr6:144553800-144555000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:144553800-144556200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:144554000-144554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:144554000-144556400	Enhancers	H9 Cell Line	embryonic stem cell

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