Variant report

Variant	rs13188386
Chromosome Location	chr5:42473555-42473556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10059251	1.00[ASN][1000 genomes]
rs10440649	1.00[CHB][hapmap]
rs11740415	0.85[GIH][hapmap]
rs11955075	0.85[GIH][hapmap]
rs11957404	1.00[CHB][hapmap]
rs13153060	1.00[ASN][1000 genomes]
rs13154521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13156541	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171720	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13180731	1.00[ASN][1000 genomes]
rs13182117	1.00[CHB][hapmap]
rs13184352	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13187542	1.00[ASN][1000 genomes]
rs13354167	1.00[CHB][hapmap]
rs17574527	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574616	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17575164	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17636762	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943878	1.00[ASN][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs34126503	1.00[ASN][1000 genomes]
rs34161441	1.00[ASN][1000 genomes]
rs34305870	1.00[ASN][1000 genomes]
rs34714947	1.00[ASN][1000 genomes]
rs34975809	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35003055	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35185573	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35331831	1.00[ASN][1000 genomes]
rs35418208	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35500216	0.87[EUR][1000 genomes]
rs35585211	1.00[ASN][1000 genomes]
rs4129472	1.00[CHB][hapmap]
rs4129645	0.88[EUR][1000 genomes]
rs4242100	1.00[ASN][1000 genomes]
rs4242101	1.00[ASN][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4320267	1.00[ASN][1000 genomes]
rs4365846	0.81[GIH][hapmap]
rs4395642	0.85[GIH][hapmap]
rs4457090	1.00[ASN][1000 genomes]
rs4866836	1.00[ASN][1000 genomes]
rs56781446	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61043035	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451618	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67314897	1.00[ASN][1000 genomes]
rs67812331	0.88[EUR][1000 genomes]
rs67846180	1.00[ASN][1000 genomes]
rs6863381	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs6872878	1.00[ASN][1000 genomes]
rs6881929	0.81[GIH][hapmap]
rs6885716	1.00[ASN][1000 genomes]
rs6891036	1.00[ASN][1000 genomes]
rs72753062	1.00[ASN][1000 genomes]
rs72753064	1.00[ASN][1000 genomes]
rs7702524	1.00[CHB][hapmap]
rs7703669	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7709790	1.00[CHB][hapmap]
rs7715374	1.00[ASN][1000 genomes]
rs7716495	1.00[ASN][1000 genomes]
rs7718962	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7732059	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7736209	0.85[GIH][hapmap]
rs9292848	1.00[ASN][1000 genomes]
rs9292851	1.00[ASN][1000 genomes]
rs9292854	1.00[CHB][hapmap]
rs9763260	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Iron status biomarkers	19084217	GWAS catalog

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:42468400-42484000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:42470000-42483000	Weak transcription	Liver	Liver
5	chr5:42471400-42474400	Weak transcription	Ovary	ovary
6	chr5:42472200-42475200	Weak transcription	Psoas Muscle	Psoas
7	chr5:42473000-42483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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