Variant report

Variant	rs2072437
Chromosome Location	chr4:16291420-16291421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16291124..16292187-chr4:16584065..16584779,3	K562	blood:
2	chr4:16291327..16292168-chr4:17473444..17474247,3	K562	blood:
3	chr4:16289502..16291807-chr4:16293592..16295112,2	K562	blood:
4	chr4:16291175..16292655-chr4:16444905..16445780,4	MCF-7	breast:
5	chr4:16027599..16028266-chr4:16291238..16292149,2	K562	blood:
6	chr4:16291216..16292322-chr4:16444840..16445760,4	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10010891	0.82[JPT][hapmap]
rs10489057	0.96[EUR][1000 genomes]
rs10489065	1.00[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs11721706	0.94[EUR][1000 genomes]
rs11722358	0.96[EUR][1000 genomes]
rs11722711	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11735255	0.92[ASW][hapmap];0.93[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11735313	0.93[EUR][1000 genomes]
rs11736850	0.97[EUR][1000 genomes]
rs11945394	0.96[EUR][1000 genomes]
rs1472572	0.95[EUR][1000 genomes]
rs16893218	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893239	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893257	0.98[EUR][1000 genomes]
rs16893316	0.85[ASW][hapmap];0.93[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs16893388	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16893404	0.86[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs16893419	0.93[EUR][1000 genomes]
rs17563625	0.81[ASN][1000 genomes]
rs1860821	0.96[EUR][1000 genomes]
rs2041540	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28566142	0.95[EUR][1000 genomes]
rs28650994	0.95[EUR][1000 genomes]
rs28659920	0.96[EUR][1000 genomes]
rs2940	0.96[EUR][1000 genomes]
rs41447446	0.96[EUR][1000 genomes]
rs57653099	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57773089	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59486353	0.97[EUR][1000 genomes]
rs59502099	0.97[EUR][1000 genomes]
rs60788991	0.96[EUR][1000 genomes]
rs6449231	0.96[EUR][1000 genomes]
rs67922017	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815561	0.96[EUR][1000 genomes]
rs6828457	0.86[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap]
rs6830484	0.93[EUR][1000 genomes]
rs6830697	0.94[EUR][1000 genomes]
rs6844412	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846948	0.98[EUR][1000 genomes]
rs73118069	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118071	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121857	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127513	0.96[EUR][1000 genomes]
rs73127519	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127521	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127531	0.96[EUR][1000 genomes]
rs73127547	0.95[EUR][1000 genomes]
rs73127555	0.86[EUR][1000 genomes]
rs73798733	0.96[EUR][1000 genomes]
rs7660573	0.96[EUR][1000 genomes]
rs7673330	0.98[EUR][1000 genomes]
rs7689789	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072437	CPEB2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16286400-16291800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:16291200-16292000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:16291400-16291800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:16291400-16292000	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:16291400-16292200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:16291400-16293400	Enhancers	Fetal Kidney	kidney

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