Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44816718..44819049-chr12:44821321..44822850,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506248	0.83[EUR][1000 genomes]
rs11836369	0.82[AFR][1000 genomes]
rs17094494	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094615	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094697	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121314	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948461	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068103	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923007	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55956897	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57673436	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61035347	1.00[ASN][1000 genomes]
rs73094339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096306	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096326	1.00[ASN][1000 genomes]
rs73096328	1.00[ASN][1000 genomes]
rs73096336	1.00[ASN][1000 genomes]
rs7310784	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310993	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085178	1.00[ASN][1000 genomes]
rs7955106	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:44821600-44823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:44821600-44824600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:44821800-44824000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:44822000-44823600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:44822000-44823600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:44822200-44823600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:44822200-44823600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:44822200-44823800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:44822400-44823000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:44822400-44823400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:44822400-44823600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:44822600-44822800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:44822600-44823000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:44822600-44823800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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