Variant report

Variant	rs2719206
Chromosome Location	chr8:130408584-130408585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130394019..130396476-chr8:130408236..130409892,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1347052	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1347053	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1432360	0.91[JPT][hapmap]
rs1432361	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs1835841	0.89[CEU][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2579865	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2579870	0.85[CEU][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap]
rs2579871	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2579872	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2579879	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2630507	0.85[CEU][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap]
rs2630509	0.82[JPT][hapmap]
rs2630514	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630518	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2630519	0.81[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2719189	0.85[CEU][hapmap];0.91[JPT][hapmap]
rs2719203	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2719212	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2719214	0.91[JPT][hapmap]
rs7828064	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs976912	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs985688	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394800-130411800	Strong transcription	K562	blood
2	chr8:130407000-130411800	Weak transcription	Dnd41	blood

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