Variant report

Variant	rs4859537
Chromosome Location	chr4:76526661-76526662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76524649..76527101-chr4:76529272..76531389,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11097070	0.89[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs11736474	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs11737705	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13116639	0.83[AFR][1000 genomes]
rs13133699	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13140908	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464070	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464071	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546539	0.80[AFR][1000 genomes]
rs1548175	0.83[AFR][1000 genomes]
rs1553984	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1967495	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1967496	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs3796473	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs3796488	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3853183	0.90[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs4337757	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4859542	0.94[AFR][1000 genomes]
rs4859543	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs4859547	0.91[ASW][hapmap];0.90[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap]
rs4859548	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs6531778	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826858	0.83[ASW][hapmap];0.90[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap]
rs6827809	0.83[YRI][hapmap]
rs6829402	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6832912	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835702	0.87[AFR][1000 genomes]
rs6858530	0.83[AFR][1000 genomes]
rs6858741	0.84[AFR][1000 genomes]
rs7674328	1.00[ASW][hapmap];0.94[GIH][hapmap];0.94[LWK][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes]
rs7685459	0.80[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9998246	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv1795456	chr4:76521217-76545465	Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793652	chr4:76521217-76581775	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4859537	PPEF2	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76504400-76535200	Weak transcription	Aorta	Aorta
2	chr4:76504800-76526800	Weak transcription	Fetal Brain Female	brain
3	chr4:76509600-76532200	Weak transcription	Lung	lung
4	chr4:76509800-76530600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:76512600-76527000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:76514800-76527200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:76517400-76527200	Weak transcription	Fetal Brain Male	brain
8	chr4:76520000-76537200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:76523800-76531600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:76525400-76528200	Weak transcription	Brain Angular Gyrus	brain
11	chr4:76525600-76527400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:76526200-76554400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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