Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82140583..82142755-chr4:82145356..82147490,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11099465	0.84[ASN][1000 genomes]
rs11733845	0.83[ASN][1000 genomes]
rs11942269	0.83[ASN][1000 genomes]
rs1349641	0.83[ASN][1000 genomes]
rs1443542	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1443543	0.88[ASN][1000 genomes]
rs1452364	0.85[ASN][1000 genomes]
rs1452366	0.91[JPT][hapmap]
rs1662845	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1712383	0.84[EUR][1000 genomes]
rs17499131	0.85[ASN][1000 genomes]
rs3114135	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4693996	0.85[ASN][1000 genomes]
rs4694006	0.85[ASN][1000 genomes]
rs6535242	0.84[ASN][1000 genomes]
rs6831114	0.84[ASN][1000 genomes]
rs6839968	0.91[JPT][hapmap]
rs788856	0.84[EUR][1000 genomes]
rs788858	0.80[EUR][1000 genomes]
rs788859	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1712387	PAQR3	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82137400-82143200	Enhancers	Fetal Intestine Large	intestine
2	chr4:82137400-82143200	Enhancers	Fetal Intestine Small	intestine
3	chr4:82142000-82143000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:82142200-82142600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:82142200-82142600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:82142200-82142600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr4:82142200-82142800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:82142200-82143000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:82142200-82143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:82142400-82142600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:82142400-82143200	Enhancers	HUES6 Cell Line	embryonic stem cell

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