Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10805206	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805207	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10938718	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs11722806	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11734531	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12498304	0.88[EUR][1000 genomes]
rs12503034	0.86[JPT][hapmap]
rs12642551	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1880025	0.86[JPT][hapmap]
rs2002860	0.81[JPT][hapmap]
rs2140336	0.86[JPT][hapmap]
rs2245808	0.86[JPT][hapmap]
rs2631723	0.86[JPT][hapmap]
rs2631729	0.85[JPT][hapmap]
rs2631737	0.81[JPT][hapmap]
rs2631763	0.86[JPT][hapmap]
rs2631765	0.86[JPT][hapmap]
rs2631766	0.86[JPT][hapmap]
rs2631767	0.85[JPT][hapmap]
rs2688221	0.81[JPT][hapmap]
rs2688228	0.86[JPT][hapmap]
rs2688230	0.86[JPT][hapmap]
rs2688234	0.86[JPT][hapmap]
rs2688240	0.90[JPT][hapmap]
rs28636730	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3103098	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3775889	0.88[MEX][hapmap]
rs6447877	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67489326	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954270	0.86[JPT][hapmap]
rs954271	0.86[JPT][hapmap]

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	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv878611	chr4:8512889-8534283	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7665475	KIAA0232	cis	parietal	SCAN
rs7665475	CNO	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8509000-8519200	Weak transcription	Brain Germinal Matrix	brain
2	chr4:8512200-8519200	Weak transcription	Spleen	Spleen
3	chr4:8514200-8520200	Enhancers	HSMMtube	muscle
4	chr4:8514600-8520000	Enhancers	Placenta	Placenta
5	chr4:8515600-8520400	Enhancers	NHDF-Ad	bronchial
6	chr4:8516400-8520200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:8516600-8520200	Enhancers	Fetal Muscle Leg	muscle
8	chr4:8516800-8520000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:8517000-8519000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:8517400-8520000	Enhancers	NHLF	lung
11	chr4:8517800-8519800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:8517800-8520200	Enhancers	Ovary	ovary
13	chr4:8518000-8519800	Enhancers	HSMM	muscle
14	chr4:8518200-8519200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:8518200-8519400	Enhancers	Osteobl	bone
16	chr4:8518400-8519400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:8518400-8519600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr4:8518400-8520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:8518600-8520400	Enhancers	Adipose Nuclei	Adipose
20	chr4:8518800-8519400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:8518800-8520000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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