Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
2	chr12:106320573..106324506-chr12:106327076..106328938,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	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]
rs34404995	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[EUR][1000 genomes]
rs7135356	1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[EUR][1000 genomes]
rs7312705	1.00[EUR][1000 genomes]
rs73391203	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391208	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	0.85[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
2	chr12:106317000-106327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:106317200-106324200	Weak transcription	Psoas Muscle	Psoas
4	chr12:106317200-106325800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:106321200-106327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106321600-106322600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:106321600-106323400	Genic enhancers	HSMMtube	muscle
8	chr12:106321600-106323400	Enhancers	NHEK	skin
9	chr12:106321800-106323200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:106321800-106323400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:106321800-106323400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:106321800-106323600	Enhancers	HMEC	breast
13	chr12:106322000-106322200	Enhancers	HSMM	muscle
14	chr12:106322000-106325400	Weak transcription	Esophagus	oesophagus
15	chr12:106322000-106325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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