Variant report

Variant	rs11748224
Chromosome Location	chr5:42458873-42458874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10059747	0.85[EUR][1000 genomes]
rs10078935	0.89[EUR][1000 genomes]
rs10472369	0.89[EUR][1000 genomes]
rs11738203	0.94[EUR][1000 genomes]
rs11743641	0.96[EUR][1000 genomes]
rs11744988	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745718	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748684	0.85[EUR][1000 genomes]
rs28463913	0.89[EUR][1000 genomes]
rs56395635	0.94[EUR][1000 genomes]
rs56937761	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57417495	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58363453	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59193921	0.94[EUR][1000 genomes]
rs66484535	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66487711	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66756362	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67526935	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67529954	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67600650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6887313	0.85[EUR][1000 genomes]
rs72750886	0.83[EUR][1000 genomes]
rs72750888	0.83[EUR][1000 genomes]
rs72750898	0.85[EUR][1000 genomes]
rs72750901	0.85[EUR][1000 genomes]
rs72753015	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72753093	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72753097	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72753100	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72754906	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72754916	0.89[EUR][1000 genomes]
rs72754917	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72754922	0.85[EUR][1000 genomes]
rs7714376	0.89[EUR][1000 genomes]
rs7727915	0.92[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42450000-42466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42454800-42460000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:42455000-42460000	Weak transcription	Psoas Muscle	Psoas
5	chr5:42455000-42461200	Weak transcription	Right Atrium	heart
6	chr5:42455000-42469600	Weak transcription	Lung	lung
7	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:42455200-42459000	Weak transcription	Adipose Nuclei	Adipose
10	chr5:42455200-42461600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:42457400-42461200	Weak transcription	Left Ventricle	heart
12	chr5:42458600-42461600	Weak transcription	Fetal Lung	lung

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