Variant report

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

rs_ID	r²[population]
rs10880693	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182702	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182703	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182707	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1224434	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1224438	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1224439	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1506677	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2055673	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055674	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643136	0.81[EUR][1000 genomes]
rs2643138	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2658972	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268044	0.90[EUR][1000 genomes]
rs268046	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs268047	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs268048	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2710419	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710452	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs370814	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs374871	0.89[EUR][1000 genomes]
rs3847982	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7295673	0.83[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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1921550	NELL2	cis	Adipose Subcutaneous	GTEx
rs1921550	NELL2	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45257000-45266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:45257400-45265200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45258600-45265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45258600-45267800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:45259600-45266000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45260000-45261600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:45260200-45262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:45260200-45263200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45260400-45261400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:45260400-45263000	Weak transcription	Fetal Brain Female	brain
12	chr12:45260400-45264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:45260800-45261400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45261200-45264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:45261200-45265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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