Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122675858..122677484-chr12:122679022..122682895,3	K562	blood:
2	chr12:122675984..122678121-chr12:122679124..122682005,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061368	1.00[CHB][hapmap]
rs11837919	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099705	1.00[ASN][1000 genomes]
rs12321299	1.00[CHB][hapmap]
rs12578794	1.00[EUR][1000 genomes]
rs12579871	1.00[ASN][1000 genomes]
rs12580043	1.00[CHB][hapmap]
rs12581610	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	1.00[CHB][hapmap]
rs36007482	1.00[EUR][1000 genomes]
rs56719421	1.00[ASN][1000 genomes]
rs56785986	1.00[ASN][1000 genomes]
rs57069824	1.00[EUR][1000 genomes]
rs57141433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57302703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785455	1.00[EUR][1000 genomes]
rs58010238	1.00[EUR][1000 genomes]
rs58270183	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59731700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61126567	1.00[ASN][1000 genomes]
rs7315448	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419768	1.00[EUR][1000 genomes]
rs7953290	1.00[CHB][hapmap]
rs7961377	1.00[EUR][1000 genomes]
rs7964780	1.00[CHB][hapmap]
rs7968764	1.00[CHB][hapmap]
rs907485	1.00[CHB][hapmap]

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122668400-122681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122670000-122683600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122674800-122685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:122677800-122687400	Weak transcription	Right Atrium	heart
5	chr12:122679000-122679400	Enhancers	Rectal Mucosa Donor 31	rectum

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