Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42911189..42915377-chr12:42915920..42919957,5	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1008040	0.95[ASN][1000 genomes]
rs10785343	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880309	0.96[ASN][1000 genomes]
rs10880311	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181537	0.85[AMR][1000 genomes]
rs12424992	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12822031	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1985217	0.95[ASN][1000 genomes]
rs2019557	0.95[ASN][1000 genomes]
rs2406678	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2406680	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2406681	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406682	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28491015	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3895894	0.94[ASN][1000 genomes]
rs4768414	0.95[ASN][1000 genomes]
rs4768415	0.95[ASN][1000 genomes]
rs4768416	0.95[ASN][1000 genomes]
rs7307491	0.95[ASN][1000 genomes]
rs9669495	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:42898400-42914000	Weak transcription	NH-A	brain
3	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
4	chr12:42901600-42940200	Weak transcription	Ovary	ovary
5	chr12:42903000-42913400	Weak transcription	HMEC	breast
6	chr12:42903400-42917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:42903400-42917800	Weak transcription	HSMMtube	muscle
8	chr12:42905000-42912000	Weak transcription	HUVEC	blood vessel
9	chr12:42906000-42917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:42906400-42913400	Weak transcription	Osteobl	bone
11	chr12:42909000-42918800	Weak transcription	Lung	lung
12	chr12:42910800-42911600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:42910800-42918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:42910800-42918400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:42910800-42918600	Weak transcription	Fetal Stomach	stomach
16	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:42911000-42913400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle

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