Variant report

Variant	rs4357059
Chromosome Location	chr5:95508726-95508727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10052354	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10056771	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs10065122	0.88[ASN][1000 genomes]
rs10074626	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10085034	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs10476663	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10866767	0.86[YRI][hapmap]
rs11951463	0.84[TSI][hapmap]
rs12054709	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13155375	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs13163809	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13172783	0.84[CEU][hapmap];0.84[TSI][hapmap]
rs13183436	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28757605	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4128178	0.84[TSI][hapmap]
rs4355545	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4416625	0.84[TSI][hapmap]
rs4869256	0.84[TSI][hapmap]
rs4869270	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6868247	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6882897	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6883111	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7341111	0.87[CEU][hapmap]
rs7443470	0.92[ASN][1000 genomes]
rs7706771	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7714279	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7716096	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7733672	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7734224	0.84[CEU][hapmap]
rs7734985	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035022	chr5:95487901-95526796	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4357059	LNPEP	cis	multi-tissue	Pritchard
rs4357059	LNPEP	cis	Liver	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95494000-95511600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:95506800-95512000	Weak transcription	Liver	Liver
3	chr5:95507200-95510200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:95507800-95511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:95508000-95508800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:95508000-95508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:95508000-95508800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:95508000-95509000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:95508000-95509000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:95508000-95509000	Enhancers	HSMM	muscle
11	chr5:95508000-95509000	Enhancers	HSMMtube	muscle
12	chr5:95508000-95509000	Enhancers	NH-A	brain
13	chr5:95508000-95509000	Enhancers	Osteobl	bone
14	chr5:95508000-95509200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:95508200-95508800	Enhancers	HMEC	breast
16	chr5:95508200-95509000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:95508200-95509000	Enhancers	NHDF-Ad	bronchial
18	chr5:95508400-95508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:95508400-95509000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:95508400-95509200	Enhancers	NHLF	lung
21	chr5:95508600-95509000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:95508600-95509000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:95508600-95511000	Weak transcription	NHEK	skin
24	chr5:95508600-95511200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95508600-95515200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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