Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:9381679..9385317-chr8:9394416..9398021,3	K562	blood:
2	chr8:9395511..9397201-chr8:9397334..9400300,2	K562	blood:
3	chr8:9395625..9398112-chr8:9401511..9403684,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10090598	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11780046	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781665	0.85[EUR][1000 genomes]
rs11785485	0.83[EUR][1000 genomes]
rs13261395	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261660	0.82[ASN][1000 genomes]
rs13265363	0.86[AMR][1000 genomes]
rs1471203	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17150201	0.90[ASN][1000 genomes]
rs17150206	0.87[ASN][1000 genomes]
rs28696132	0.80[AMR][1000 genomes]
rs34374861	0.83[EUR][1000 genomes]
rs34622193	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35075657	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35200157	0.83[EUR][1000 genomes]
rs35565635	0.82[EUR][1000 genomes]
rs35617039	0.82[EUR][1000 genomes]
rs4840423	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4840424	0.82[EUR][1000 genomes]
rs4841169	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841171	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55797444	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6601328	0.83[EUR][1000 genomes]
rs7009486	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7388554	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv275392	chr8:9396173-9397338	Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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