Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9100815..9102650-chr12:9132066..9134707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313493	1.00[ASN][1000 genomes]
rs12313494	1.00[ASN][1000 genomes]
rs12314142	1.00[ASN][1000 genomes]
rs12314310	1.00[ASN][1000 genomes]
rs12317136	1.00[ASN][1000 genomes]
rs16917943	1.00[ASN][1000 genomes]
rs16917957	1.00[ASN][1000 genomes]
rs1805696	1.00[ASN][1000 genomes]
rs1805750	0.85[EUR][1000 genomes]
rs28769384	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026237	1.00[ASN][1000 genomes]
rs3026240	1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883207	1.00[ASN][1000 genomes]
rs4883210	1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	1.00[ASN][1000 genomes]
rs7310680	1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7312460	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv819596	chr12:9113514-9141537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr12:9133000-9133800	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr12:9133000-9133800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr12:9133000-9133800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr12:9133000-9133800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr12:9133000-9133800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
6	chr12:9133200-9139800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:9133400-9133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:9133400-9134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:9133600-9134200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:9133600-9138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:9133600-9140600	Weak transcription	Spleen	Spleen

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