Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:70575346-70575715	K562	blood:	n/a	n/a

Variant related genes	Relation type
COL19A1	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10498870	0.91[ASN][1000 genomes]
rs13194248	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13197316	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13200171	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13209483	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13217925	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1572898	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17688591	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34347922	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34516452	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34791579	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36034975	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36090294	0.98[ASN][1000 genomes]
rs4492160	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56227699	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62420104	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62420119	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6905176	0.84[ASN][1000 genomes]
rs6914372	0.96[ASN][1000 genomes]
rs6919210	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6940876	0.84[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	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70570200-70576200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:70572200-70576200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:70574000-70576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:70574200-70576200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:70574600-70576200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:70575000-70575800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:70575000-70575800	Active TSS	Primary B cells from peripheral blood	blood
8	chr6:70575000-70575800	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:70575000-70576000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:70575000-70576200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr6:70575000-70576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:70575200-70576200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:70575400-70576200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:70575400-70576200	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:70575600-70576000	Weak transcription	NH-A	brain

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