Variant report

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

rs_ID	r²[population]
rs10844398	0.83[EUR][1000 genomes]
rs10844443	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11052382	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052397	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11052410	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11513272	0.87[EUR][1000 genomes]
rs12367772	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12368488	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12369282	0.85[EUR][1000 genomes]
rs12370292	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424673	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12424905	0.80[EUR][1000 genomes]
rs1392334	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2133676	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4931674	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4931677	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931681	0.80[EUR][1000 genomes]
rs59704095	0.86[ASN][1000 genomes]
rs61927344	0.84[EUR][1000 genomes]
rs61928782	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61928784	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33150400-33153200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:33150600-33152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:33150600-33152800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:33150600-33153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:33152600-33152800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:33152600-33153400	Enhancers	HUES64 Cell Line	embryonic stem cell

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