Variant report

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

rs_ID	r²[population]
rs10093232	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093382	0.81[EUR][1000 genomes]
rs10108248	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955822	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955825	0.84[EUR][1000 genomes]
rs13439042	0.83[EUR][1000 genomes]
rs1383176	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396351	0.87[EUR][1000 genomes]
rs1396354	0.83[EUR][1000 genomes]
rs1508555	0.81[EUR][1000 genomes]
rs1508566	0.83[EUR][1000 genomes]
rs1508569	0.87[EUR][1000 genomes]
rs16890041	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17753197	0.89[EUR][1000 genomes]
rs218018	0.86[TSI][hapmap]
rs2202792	0.83[EUR][1000 genomes]
rs2202793	0.83[EUR][1000 genomes]
rs34660998	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604472	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469700	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7815693	0.87[EUR][1000 genomes]
rs7838659	0.87[EUR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10955823	PAPPA	trans	cerebellum	SCAN
rs10955823	NT5M	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118663000-118677000	Weak transcription	HSMM	muscle
2	chr8:118663000-118679200	Weak transcription	Aorta	Aorta
3	chr8:118671600-118682600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:118675200-118677600	Enhancers	Liver	Liver
5	chr8:118676000-118681000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:118676000-118681200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118676000-118681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:118676000-118682000	Weak transcription	Ovary	ovary
9	chr8:118676000-118682400	Weak transcription	Fetal Lung	lung
10	chr8:118676000-118684000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:118676200-118681400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:118676200-118681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:118676400-118678600	Enhancers	HepG2	liver
14	chr8:118676400-118681400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:118676400-118681400	Weak transcription	NHDF-Ad	bronchial
16	chr8:118676400-118681600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:118676600-118681400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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