Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130454492..130456593-chr8:130464974..130467695,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10102471	0.86[ASN][1000 genomes]
rs10103083	0.86[JPT][hapmap]
rs1030626	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10956479	0.86[ASN][1000 genomes]
rs1118872	0.82[JPT][hapmap]
rs1124682	0.86[JPT][hapmap]
rs11781179	0.86[ASN][1000 genomes]
rs11996992	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545968	0.82[JPT][hapmap]
rs12681076	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1368136	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465680	0.86[JPT][hapmap]
rs1594597	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2217589	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2395899	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4733707	0.86[JPT][hapmap]
rs6989293	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6989619	0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6998642	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs744652	0.82[JPT][hapmap]
rs7837648	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs891833	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs9969496	0.83[ASN][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	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
2	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130448600-130458800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:130451400-130462000	Weak transcription	Thymus	Thymus
3	chr8:130452400-130458200	Weak transcription	Fetal Thymus	thymus
4	chr8:130452600-130457800	Weak transcription	Dnd41	blood
5	chr8:130453800-130457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:130454200-130458000	Strong transcription	K562	blood

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