Variant report

Variant	rs7993748
Chromosome Location	chr13:52941631-52941632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs1056335	0.90[CHB][hapmap]
rs11148252	0.91[ASW][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.94[YRI][hapmap]
rs11618716	1.00[ASW][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[LWK][hapmap];0.94[YRI][hapmap]
rs11620062	0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap]
rs12430144	0.81[CHB][hapmap]
rs12870706	0.80[CHB][hapmap]
rs1327323	0.85[CHB][hapmap]
rs1815348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3803264	0.90[CHB][hapmap]
rs3886077	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3892337	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4286007	1.00[ASW][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.94[YRI][hapmap]
rs4545703	0.88[ASW][hapmap];0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap]
rs4884320	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs4884354	0.95[CHB][hapmap]
rs4884452	0.91[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4885953	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4886018	0.91[ASW][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap]
rs4886077	0.95[CHB][hapmap]
rs6561664	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6561665	0.90[CHB][hapmap]
rs6561666	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7321964	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs7323666	0.95[CHB][hapmap]
rs7328653	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7333451	0.95[CHB][hapmap]
rs7334583	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336679	0.95[CHB][hapmap]
rs7400602	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7981050	0.90[CHB][hapmap]
rs7981732	0.81[EUR][1000 genomes]
rs7983971	0.90[CHB][hapmap]
rs7987115	0.91[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs7990581	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8001624	0.95[CHB][hapmap]
rs9379	0.90[CHB][hapmap]
rs9526913	1.00[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9526927	0.89[ASN][1000 genomes]
rs9535895	0.82[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.87[YRI][hapmap]
rs9535914	0.89[CEU][hapmap]
rs9536046	0.90[CHB][hapmap]
rs9536048	0.90[CHB][hapmap]
rs9536052	0.90[CHB][hapmap]
rs9536066	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9536079	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9568728	0.82[EUR][1000 genomes]
rs9568732	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568734	1.00[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596643	0.89[CHB][hapmap]
rs9596648	0.90[CHB][hapmap]
rs9596649	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596651	0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap]

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	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7993748	CKAP2	cis	Artery Tibial	GTEx
rs7993748	HNRNPA1L2	cis	cerebellum	SCAN
rs7993748	LECT1	cis	parietal	SCAN
rs7993748	CKAP2	cis	Nerve Tibial	GTEx
rs7993748	NEK3	Cis_1M	lymphoblastoid	RTeQTL
rs7993748	CKAP2	cis	parietal	SCAN
rs7993748	CKAP2	cis	Adipose Subcutaneous	GTEx
rs7993748	CKAP2	cis	cerebellum	SCAN
rs7993748	CKAP2	cis	lung	GTEx
rs7993748	CKAP2	cis	Thyroid	GTEx
rs7993748	CKAP2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52934000-52951800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:52934600-52944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:52940800-52945800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:52941400-52945800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:52941600-52945800	Weak transcription	Fetal Muscle Leg	muscle

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