Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:64920914..64922948-chr12:64942008..64944080,2	MCF-7	breast:
2	chr12:64919819..64922474-chr12:64926884..64928864,2	K562	blood:
3	chr12:64920842..64922455-chr12:64927562..64929493,2	MCF-7	breast:
4	chr12:64916825..64919020-chr12:64921369..64923962,2	K562	blood:

Variant related genes	Relation type
ENSG00000256199	Chromatin interaction

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

rs_ID	r²[population]
rs10459260	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506538	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10784414	0.96[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11175429	0.94[ASN][1000 genomes]
rs11175430	0.89[EUR][1000 genomes]
rs11175442	0.81[EUR][1000 genomes]
rs11175443	0.86[EUR][1000 genomes]
rs11175444	0.87[EUR][1000 genomes]
rs12315614	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12317855	0.94[ASN][1000 genomes]
rs12809605	0.88[ASN][1000 genomes]
rs34027433	0.88[ASN][1000 genomes]
rs35112648	0.88[ASN][1000 genomes]
rs35731857	0.88[ASN][1000 genomes]
rs4964109	0.92[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs6581575	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66814497	0.94[ASN][1000 genomes]
rs7312250	0.90[EUR][1000 genomes]
rs73124191	0.81[ASN][1000 genomes]
rs7966390	0.80[YRI][hapmap]
rs7972780	0.92[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs7973646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr12:64912400-64927600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:64915000-64922400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:64916600-64925400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:64916800-64922400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:64916800-64925400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:64916800-64925400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:64916800-64925600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:64917000-64925600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:64917400-64922400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:64919800-64926600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:64920200-64922400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:64921200-64922400	Weak transcription	NHDF-Ad	bronchial
13	chr12:64921200-64922600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:64921800-64923600	Enhancers	Dnd41	blood

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