Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:124851825..124854245-chr8:124869271..124871198,2	K562	blood:
2	chr8:124852984..124855101-chr8:124954477..124956245,2	K562	blood:
3	chr8:124807675..124809478-chr8:124853214..124854942,2	K562	blood:
4	chr8:124832995..124835847-chr8:124852193..124854315,2	K562	blood:
5	chr8:124852745..124855181-chr8:124869698..124872511,2	K562	blood:

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

rs_ID	r²[population]
rs12155526	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13278088	0.81[ASN][1000 genomes]
rs1367827	0.98[ASN][1000 genomes]
rs1431670	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1431671	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1594501	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1821116	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116357	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2116358	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385518	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385519	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385520	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385521	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870869	0.98[ASN][1000 genomes]
rs6470186	0.81[CHB][hapmap]
rs6470190	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470191	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985019	0.81[ASN][1000 genomes]
rs6987803	0.98[ASN][1000 genomes]
rs7014235	0.98[ASN][1000 genomes]
rs72715071	0.81[ASN][1000 genomes]
rs72715072	0.81[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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124850800-124853600	Enhancers	HMEC	breast
2	chr8:124850800-124853600	Enhancers	HSMM	muscle
3	chr8:124850800-124855200	Weak transcription	Aorta	Aorta
4	chr8:124851200-124853600	Enhancers	NHLF	lung
5	chr8:124852200-124855200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:124852400-124853800	Enhancers	NHDF-Ad	bronchial
7	chr8:124852600-124853600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:124852800-124856800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:124853000-124856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:124853400-124854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:124853400-124856600	Weak transcription	NHEK	skin

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