Variant report

Variant	rs11744988
Chromosome Location	chr5:42474696-42474697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10059747	0.83[EUR][1000 genomes]
rs10078935	0.87[EUR][1000 genomes]
rs10472369	0.87[EUR][1000 genomes]
rs11738203	0.91[EUR][1000 genomes]
rs11740415	1.00[CHD][hapmap]
rs11743641	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11745718	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11748224	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11748684	0.83[EUR][1000 genomes]
rs11955075	1.00[CHD][hapmap]
rs13162596	0.81[AMR][1000 genomes]
rs13184352	1.00[CHD][hapmap]
rs17574616	1.00[CHD][hapmap]
rs28463913	0.87[EUR][1000 genomes]
rs4365846	1.00[CHD][hapmap]
rs4395642	1.00[CHD][hapmap]
rs56395635	0.91[EUR][1000 genomes]
rs56937761	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57417495	0.91[EUR][1000 genomes]
rs58363453	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59193921	0.91[EUR][1000 genomes]
rs59463904	0.85[AMR][1000 genomes]
rs66484535	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66487711	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66756362	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67526935	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67529954	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67600650	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6881929	1.00[CHD][hapmap]
rs6887313	0.83[EUR][1000 genomes]
rs6887528	1.00[CEU][hapmap]
rs72750888	0.81[EUR][1000 genomes]
rs72750898	0.83[EUR][1000 genomes]
rs72750901	0.83[EUR][1000 genomes]
rs72753015	0.87[EUR][1000 genomes]
rs72753093	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753097	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72753100	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754906	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754916	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754917	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754922	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7714376	0.87[EUR][1000 genomes]
rs7727915	0.90[EUR][1000 genomes]
rs7736209	1.00[CHD][hapmap]

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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:42468400-42484000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:42470000-42483000	Weak transcription	Liver	Liver
4	chr5:42472200-42475200	Weak transcription	Psoas Muscle	Psoas
5	chr5:42473000-42483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:42474600-42483200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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