Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106346252..106348542-chr12:106377078..106379837,2	MCF-7	breast:
2	chr12:106336753..106339522-chr12:106344807..106346939,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11112785	1.00[ASN][1000 genomes]
rs11112802	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112819	1.00[ASN][1000 genomes]
rs12301159	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037848	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	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs61179844	1.00[ASN][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	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106336600-106347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106339000-106347600	Weak transcription	NHEK	skin
3	chr12:106339200-106348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:106339200-106348600	Weak transcription	HMEC	breast
5	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
6	chr12:106342800-106348800	Weak transcription	HSMMtube	muscle
7	chr12:106343000-106348800	Weak transcription	Aorta	Aorta
8	chr12:106343400-106347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:106343400-106348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:106346000-106348600	Weak transcription	Left Ventricle	heart
11	chr12:106346000-106348600	Weak transcription	Right Atrium	heart
12	chr12:106346000-106348600	Weak transcription	Right Ventricle	heart
13	chr12:106346200-106348200	Weak transcription	Fetal Heart	heart
14	chr12:106346200-106353800	Weak transcription	Lung	lung

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