Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:120311757..120313490-chr12:120315922..120318216,2	K562	blood:
2	chr12:120315180..120318058-chr12:120425281..120427733,2	K562	blood:
3	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11064946	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303725	0.95[EUR][1000 genomes]
rs12303871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310524	0.84[AFR][1000 genomes]
rs12319537	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320276	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313223	0.90[EUR][1000 genomes]
rs55906258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57243313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459050	0.94[EUR][1000 genomes]
rs57487797	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57626094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57908788	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58111169	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58893111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347602	0.95[EUR][1000 genomes]
rs59442639	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60392056	0.84[EUR][1000 genomes]
rs60588068	0.85[AFR][1000 genomes]
rs7304029	0.95[EUR][1000 genomes]
rs73418594	0.90[EUR][1000 genomes]
rs73420611	0.84[AFR][1000 genomes]
rs73420615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967407	0.83[EUR][1000 genomes];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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120315600-120318000	Weak transcription	Right Atrium	heart
2	chr12:120315600-120320000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:120315600-120320000	Weak transcription	NHDF-Ad	bronchial
4	chr12:120316000-120330200	Weak transcription	A549	lung

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