Variant report

Variant	rs2972416
Chromosome Location	chr5:42474729-42474730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10061299	0.89[CEU][hapmap]
rs10755268	0.90[EUR][1000 genomes]
rs1117110	0.94[EUR][1000 genomes]
rs11738365	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11742495	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11747975	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11748366	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11957616	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13162973	0.90[EUR][1000 genomes]
rs1396768	0.91[EUR][1000 genomes]
rs1396773	0.90[EUR][1000 genomes]
rs1467049	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1509452	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1509455	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1509456	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1567374	0.90[EUR][1000 genomes]
rs1605848	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1605851	0.94[EUR][1000 genomes]
rs1858136	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs1858137	0.90[EUR][1000 genomes]
rs1858139	0.86[EUR][1000 genomes]
rs1876788	0.90[EUR][1000 genomes]
rs1876790	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1912107	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs1960498	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2036745	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2175126	0.93[EUR][1000 genomes]
rs2202883	0.94[EUR][1000 genomes]
rs2221712	0.94[EUR][1000 genomes]
rs2395970	0.94[EUR][1000 genomes]
rs2940912	0.89[EUR][1000 genomes]
rs2940914	0.94[EUR][1000 genomes]
rs2940916	0.89[CEU][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2940917	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2940918	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2940919	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2940920	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2940922	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2940926	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2940929	0.89[EUR][1000 genomes]
rs2940931	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2940934	0.94[EUR][1000 genomes]
rs2940935	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2940939	0.88[EUR][1000 genomes]
rs2940942	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2940943	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972395	0.90[EUR][1000 genomes]
rs2972400	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs2972404	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2972406	0.92[EUR][1000 genomes]
rs2972407	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2972410	0.96[EUR][1000 genomes]
rs2972411	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2972412	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2972413	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2972414	0.91[EUR][1000 genomes]
rs2972415	0.89[EUR][1000 genomes]
rs2972417	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2972419	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34509769	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4642376	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4866890	0.90[EUR][1000 genomes]
rs60126365	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61636452	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62370646	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62370648	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6451614	0.90[EUR][1000 genomes]
rs6876736	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6881436	0.88[EUR][1000 genomes]
rs6884737	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7379192	0.90[EUR][1000 genomes]
rs7704355	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7728337	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9686286	0.89[EUR][1000 genomes]
rs974051	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.95[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: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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