Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10771624	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10771631	0.88[AMR][1000 genomes]
rs10843594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843596	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319489	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2101986	0.86[AMR][1000 genomes]
rs2351019	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4930879	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930881	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4931252	0.82[AMR][1000 genomes]
rs58614462	0.87[AFR][1000 genomes]
rs7138096	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7298141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300353	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306144	0.91[AFR][1000 genomes]
rs7307772	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73287791	0.83[AFR][1000 genomes]
rs73287801	0.83[AFR][1000 genomes]
rs73287802	0.89[AFR][1000 genomes]
rs7959152	0.90[EUR][1000 genomes]
rs7968310	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7979125	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30214000-30216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:30215400-30215800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:30215400-30215800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:30215400-30217000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:30215600-30215800	Active TSS	HUES6 Cell Line	embryonic stem cell

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