Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79135320..79138414-chr15:79142742..79145472,3	K562	blood:
2	chr15:79129678..79131775-chr15:79135798..79137717,2	K562	blood:

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

rs_ID	r²[population]
rs11072812	0.83[EUR][1000 genomes]
rs11632020	0.81[EUR][1000 genomes]
rs11632720	0.80[ASN][1000 genomes]
rs11637783	0.81[EUR][1000 genomes]
rs11639335	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11856953	0.93[ASN][1000 genomes]
rs11857877	0.83[EUR][1000 genomes]
rs12232282	0.83[EUR][1000 genomes]
rs12907065	0.85[ASN][1000 genomes]
rs28580532	0.83[EUR][1000 genomes]
rs4132786	0.83[EUR][1000 genomes]
rs4344704	0.83[EUR][1000 genomes]
rs4389112	0.93[ASN][1000 genomes]
rs4420501	0.83[EUR][1000 genomes]
rs4438276	0.83[EUR][1000 genomes]
rs4439728	0.83[EUR][1000 genomes]
rs4491476	0.93[ASN][1000 genomes]
rs4567668	0.83[EUR][1000 genomes]
rs66925868	0.93[ASN][1000 genomes]
rs7173743	0.83[EUR][1000 genomes]
rs72749206	0.93[ASN][1000 genomes]
rs8037171	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56227704	CTSH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79118400-79138400	Weak transcription	Right Atrium	heart
2	chr15:79134000-79136600	Weak transcription	HSMMtube	muscle
3	chr15:79134000-79147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:79134800-79142800	Weak transcription	Fetal Stomach	stomach
5	chr15:79136000-79138600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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