Variant report

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

rs_ID	r²[population]
rs10785342	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880308	0.84[EUR][1000 genomes]
rs11181527	0.80[EUR][1000 genomes]
rs11181532	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11181533	0.92[EUR][1000 genomes]
rs12822031	0.84[AMR][1000 genomes]
rs1376929	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1376930	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1962405	0.84[EUR][1000 genomes]
rs2406679	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2406680	0.84[AMR][1000 genomes]
rs2406681	0.84[AMR][1000 genomes]
rs2406682	0.84[AMR][1000 genomes]
rs2708079	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28491015	0.84[AMR][1000 genomes]
rs4768018	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768419	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61924423	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7137124	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7953091	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7965948	0.88[EUR][1000 genomes]
rs7966423	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7966769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976735	0.82[EUR][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:17 , 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	chr12:42909400-42911000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:42910000-42910800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:42910200-42910800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:42910400-42910800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:42910400-42910800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr12:42910400-42910800	ZNF genes & repeats	Fetal Stomach	stomach

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