Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10744660	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs10774265	0.97[ASN][1000 genomes]
rs10849121	0.84[ASN][1000 genomes]
rs10849122	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849123	0.87[ASN][1000 genomes]
rs10849124	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849134	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs11063310	0.97[ASN][1000 genomes]
rs11063312	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063319	0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11063323	0.81[CHB][hapmap]
rs12312983	0.81[CHB][hapmap]
rs12422704	0.81[CHB][hapmap]
rs1860347	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2079776	0.97[ASN][1000 genomes]
rs3782743	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4766284	0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4766285	0.87[ASN][1000 genomes]
rs6489562	0.97[ASN][1000 genomes]
rs6489564	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7132150	0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7307792	0.84[ASN][1000 genomes]
rs7311212	0.97[ASN][1000 genomes]
rs7962439	0.97[ASN][1000 genomes]
rs7979891	0.82[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv525579	chr12:4816890-4822915	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:4807400-4823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:4817600-4821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:4817600-4823800	Weak transcription	Liver	Liver
7	chr12:4817800-4825000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:4818400-4820000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:4819200-4820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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