Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:46661340..46664097-chr12:46672513..46674779,3	K562	blood:
2	chr12:46672597..46675328-chr12:46766468..46768350,2	MCF-7	breast:
3	chr12:46672529..46674114-chr12:46761613..46763719,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10506267	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506268	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183454	1.00[EUR][1000 genomes]
rs1125908	1.00[EUR][1000 genomes]
rs11830769	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11831535	0.81[AMR][1000 genomes]
rs11834905	1.00[EUR][1000 genomes]
rs17096884	1.00[EUR][1000 genomes]
rs2085682	0.83[AFR][1000 genomes]
rs2125646	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2307062	1.00[EUR][1000 genomes]
rs2307063	1.00[EUR][1000 genomes]
rs2408509	1.00[EUR][1000 genomes]
rs3742061	1.00[EUR][1000 genomes]
rs3843676	0.81[AMR][1000 genomes]
rs56222195	1.00[EUR][1000 genomes]
rs57067899	1.00[EUR][1000 genomes]
rs57149475	1.00[EUR][1000 genomes]
rs57271454	1.00[EUR][1000 genomes]
rs57425661	1.00[EUR][1000 genomes]
rs58470507	0.90[AMR][1000 genomes]
rs59702903	0.95[ASN][1000 genomes]
rs60977966	1.00[EUR][1000 genomes]
rs61232019	1.00[EUR][1000 genomes]
rs61406609	1.00[EUR][1000 genomes]
rs61517444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282532	1.00[EUR][1000 genomes]
rs73282561	1.00[EUR][1000 genomes]
rs73282591	1.00[EUR][1000 genomes]
rs74082085	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74083707	1.00[EUR][1000 genomes]
rs74083710	1.00[EUR][1000 genomes]
rs74084031	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923788	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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 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	chr12:46664000-46675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46664200-46677400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46664400-46673800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:46665200-46673400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:46665200-46677200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:46665400-46674000	Weak transcription	GM12878-XiMat	blood
7	chr12:46665400-46676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:46665600-46675600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:46666000-46674200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:46666000-46674200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:46666200-46674200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:46666800-46676200	Weak transcription	Primary T cells from cord blood	blood
13	chr12:46670800-46674400	Weak transcription	Fetal Thymus	thymus
14	chr12:46671400-46673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:46671600-46674400	Weak transcription	Primary B cells from cord blood	blood

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