Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:16843780..16847710-chr6:16848313..16852729,4	K562	blood:
2	chr6:16843780..16845806-chr6:16849585..16851748,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10949386	0.86[ASN][1000 genomes]
rs11961262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12204538	0.86[ASN][1000 genomes]
rs1240835	0.86[ASN][1000 genomes]
rs1240839	0.86[ASN][1000 genomes]
rs12526123	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12526558	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12528183	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12529016	0.92[AMR][1000 genomes]
rs16879271	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16879276	0.80[AMR][1000 genomes]
rs16879284	0.92[AMR][1000 genomes]
rs2797805	0.86[ASN][1000 genomes]
rs57192327	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57355941	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57489962	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59333382	0.88[AMR][1000 genomes]
rs59690250	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6459487	0.85[ASN][1000 genomes]
rs73725256	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9464950	0.86[ASN][1000 genomes]
rs9464951	0.86[ASN][1000 genomes]
rs9464952	0.85[ASN][1000 genomes]
rs9477235	0.86[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	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16837400-16849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:16837800-16849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:16838600-16849600	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:16838800-16849600	Weak transcription	Brain Germinal Matrix	brain
5	chr6:16841600-16849000	Weak transcription	NH-A	brain
6	chr6:16841800-16849800	Weak transcription	Fetal Brain Female	brain
7	chr6:16842000-16846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:16842400-16849600	Weak transcription	NHEK	skin
9	chr6:16842600-16849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:16843000-16844800	Enhancers	Fetal Lung	lung
11	chr6:16844000-16844600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:16844400-16844600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:16844400-16844600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:16844400-16844600	Enhancers	Fetal Muscle Trunk	muscle

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