Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:122882914..122885430-chr12:122909279..122910884,2	MCF-7	breast:
2	chr12:122888608..122890909-chr12:122907280..122910436,3	K562	blood:
3	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
4	chr12:122905026..122908130-chr12:122908713..122910760,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257097	Chromatin interaction
ENSG00000130779	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12297174	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12297513	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12300062	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12303070	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12303304	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12305053	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12312090	0.90[AMR][1000 genomes]
rs12314651	0.89[LWK][hapmap];0.90[AMR][1000 genomes]
rs12319914	0.90[AMR][1000 genomes]
rs12320418	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7294383	0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs7311062	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7313301	1.00[MEX][hapmap]
rs7959187	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7966324	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7972719	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7976224	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7976580	0.90[AMR][1000 genomes]
rs7978870	0.82[MKK][hapmap]
rs7980777	0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122908200-122910600	Enhancers	Primary B cells from cord blood	blood
2	chr12:122908400-122910600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:122908400-122922000	Weak transcription	Right Atrium	heart
4	chr12:122908600-122910800	Weak transcription	Thymus	Thymus
5	chr12:122908600-122916000	Weak transcription	Liver	Liver
6	chr12:122908800-122911800	Weak transcription	Placenta	Placenta
7	chr12:122908800-122919000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:122908800-122921800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122910200-122910600	Enhancers	GM12878-XiMat	blood
10	chr12:122910400-122915000	Weak transcription	A549	lung
11	chr12:122910400-122915000	Weak transcription	HepG2	liver

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