Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37671782..37674545-chr13:37677973..37680312,2	K562	blood:

Variant related genes	Relation type
ENSG00000180138	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11147624	0.86[JPT][hapmap]
rs11147625	0.86[JPT][hapmap]
rs11147626	0.86[JPT][hapmap]
rs11147627	0.86[JPT][hapmap]
rs11838739	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078022	1.00[JPT][hapmap]
rs2243710	1.00[JPT][hapmap]
rs2323396	0.86[JPT][hapmap]
rs3818380	1.00[JPT][hapmap]
rs3852618	0.86[JPT][hapmap]
rs3852619	0.91[JPT][hapmap]
rs3864999	0.86[JPT][hapmap]
rs4054546	0.89[JPT][hapmap]
rs4943438	1.00[JPT][hapmap]
rs4943439	1.00[JPT][hapmap]
rs4943440	1.00[JPT][hapmap]
rs8000946	1.00[JPT][hapmap]
rs9315455	0.86[JPT][hapmap]
rs9315468	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9469	0.93[JPT][hapmap]
rs9547711	1.00[JPT][hapmap]
rs9547713	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs9547724	0.88[EUR][1000 genomes]
rs9566177	0.86[JPT][hapmap]
rs9566178	0.84[JPT][hapmap]
rs9576151	1.00[JPT][hapmap]
rs9576156	0.93[JPT][hapmap]
rs9576167	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs9576176	0.86[JPT][hapmap]
rs9576177	0.86[JPT][hapmap]
rs9576178	0.86[JPT][hapmap]
rs9576181	0.86[JPT][hapmap]
rs9603126	0.81[CEU][hapmap];1.00[JPT][hapmap]

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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs954370	ALG5	Cis_1M	lymphoblastoid	RTeQTL
rs954370	EXOSC8	cis	parietal	SCAN
rs954370	ALG5	cis	parietal	SCAN
rs954370	FAM48A	Cis_1M	lymphoblastoid	RTeQTL
rs954370	N4BP2L2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37665400-37678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:37670800-37672400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:37671200-37672000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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