Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
2	chr12:106313628..106315997-chr12:106317077..106319893,2	K562	blood:
3	chr12:106319277..106321862-chr12:106325653..106327351,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037848	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037959	1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	1.00[EUR][1000 genomes]
rs17038024	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135356	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[EUR][1000 genomes]
rs7312705	1.00[EUR][1000 genomes]
rs73391203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391222	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744346	1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv2761768	chr12:106317265-106326204	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
2	chr12:106316800-106320200	Weak transcription	HUVEC	blood vessel
3	chr12:106317000-106321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:106317000-106321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:106317000-106327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:106317200-106321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:106317200-106324200	Weak transcription	Psoas Muscle	Psoas
8	chr12:106317200-106325800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:106317400-106321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:106317400-106321800	Weak transcription	HSMM	muscle
11	chr12:106318200-106320600	Transcr. at gene 5' and 3'	HSMMtube	muscle

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