Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:106290301..106292284-chr12:106297027..106299498,2	K562	blood:
2	chr12:106293395..106295805-chr12:106296043..106298389,2	MCF-7	breast:
3	chr12:106289622..106291311-chr12:106295279..106297822,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10161316	0.84[ASN][1000 genomes]
rs10861533	0.81[ASN][1000 genomes]
rs11112794	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12370011	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12425720	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12823139	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12825459	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2032768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34338597	0.95[ASN][1000 genomes]
rs34439664	0.95[ASN][1000 genomes]
rs4326893	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56390523	0.90[ASN][1000 genomes]
rs61940146	0.84[ASN][1000 genomes]
rs7132142	0.90[ASN][1000 genomes]
rs7295289	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7296251	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7300132	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7306627	0.82[ASN][1000 genomes]
rs7957583	0.98[ASN][1000 genomes]
rs7974829	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7975867	0.81[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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106292800-106305600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:106293600-106300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:106296800-106299800	Weak transcription	HSMMtube	muscle

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