Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118666783..118669517-chr8:118670743..118673138,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10089009	0.84[EUR][1000 genomes]
rs10093232	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093382	0.86[EUR][1000 genomes]
rs10108248	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955822	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955823	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955825	0.90[EUR][1000 genomes]
rs1160474	0.84[EUR][1000 genomes]
rs13254406	0.81[EUR][1000 genomes]
rs13280410	0.81[EUR][1000 genomes]
rs13439042	0.89[EUR][1000 genomes]
rs1383176	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396351	0.93[EUR][1000 genomes]
rs1396354	0.89[EUR][1000 genomes]
rs1508555	0.86[EUR][1000 genomes]
rs1508566	0.89[EUR][1000 genomes]
rs1508569	0.93[EUR][1000 genomes]
rs16890041	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17753197	0.95[EUR][1000 genomes]
rs218017	0.87[CEU][hapmap]
rs218018	0.87[CEU][hapmap];0.86[TSI][hapmap]
rs2202792	0.89[EUR][1000 genomes]
rs2202793	0.89[EUR][1000 genomes]
rs2202794	0.84[EUR][1000 genomes]
rs34660998	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876727	0.84[EUR][1000 genomes]
rs6469700	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6469701	0.80[EUR][1000 genomes]
rs7815693	0.93[EUR][1000 genomes]
rs7838659	0.93[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
rs4604472	NT5M	trans	parietal	SCAN
rs4604472	PAPPA	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118663000-118675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118663000-118675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:118663000-118676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:118663000-118677000	Weak transcription	HSMM	muscle
5	chr8:118663000-118679200	Weak transcription	Aorta	Aorta
6	chr8:118663200-118675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:118670200-118675200	Weak transcription	Fetal Stomach	stomach
8	chr8:118671000-118671800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:118671000-118675600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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