Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130393992..130396529-chr8:130398581..130401379,2	K562	blood:
2	chr8:130396550..130399217-chr8:130400172..130403294,3	K562	blood:

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

rs_ID	r²[population]
rs1583246	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs2016932	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2568408	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2568409	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs2568410	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2568411	0.81[CHB][hapmap]
rs2568414	0.81[CHB][hapmap]
rs2579862	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2579875	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2579878	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2630511	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2630515	0.91[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]
rs2630516	0.91[CEU][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2630520	0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2630521	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2719194	0.86[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]
rs2719205	0.87[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2719210	0.84[ASN][1000 genomes]
rs2719222	0.95[CEU][hapmap];0.80[CHB][hapmap];0.88[JPT][hapmap]
rs7827080	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7827184	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7827366	0.95[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs976437	OC90	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130394600-130401000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130394800-130399200	Enhancers	Fetal Thymus	thymus
3	chr8:130394800-130411800	Strong transcription	K562	blood
4	chr8:130395600-130399400	Enhancers	Thymus	Thymus
5	chr8:130397800-130401000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130398200-130401200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:130399000-130399400	Flanking Active TSS	Dnd41	blood

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