Variant report

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

rs_ID	r²[population]
rs10785539	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880695	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880696	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880704	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182706	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11615964	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506676	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1506678	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1506679	0.84[ASN][1000 genomes]
rs1506680	0.84[ASN][1000 genomes]
rs1876241	0.83[ASN][1000 genomes]
rs2465108	0.80[ASN][1000 genomes]
rs2465110	0.84[ASN][1000 genomes]
rs2658948	0.85[ASN][1000 genomes]
rs2658954	0.82[ASN][1000 genomes]
rs2939697	0.85[ASN][1000 genomes]
rs2939698	0.85[ASN][1000 genomes]
rs7295923	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305124	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7952764	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953663	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963606	0.86[ASN][1000 genomes]
rs7979717	0.91[EUR][1000 genomes];0.95[ASN][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
rs7304472	DBX2	cis	Skin Sun Exposed Lower leg	GTEx
rs7304472	RP11-478B9.2	cis	Skin Sun Exposed Lower leg	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	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:45260200-45262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:45260200-45263200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:45260400-45263000	Weak transcription	Fetal Brain Female	brain
10	chr12:45260400-45264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:45261200-45264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:45261200-45265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45261400-45263200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45261600-45262600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:45262000-45267800	Weak transcription	Primary T cells fromperipheralblood	blood

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