Variant report

Variant	rs72748687
Chromosome Location	chr5:42108268-42108269
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10044526	0.81[EUR][1000 genomes]
rs11738449	0.81[EUR][1000 genomes]
rs11742939	0.81[EUR][1000 genomes]
rs11744111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872094	0.81[EUR][1000 genomes]
rs16872097	0.81[EUR][1000 genomes]
rs16872099	0.81[EUR][1000 genomes]
rs16872114	0.81[EUR][1000 genomes]
rs1813615	0.81[EUR][1000 genomes]
rs1813616	0.81[EUR][1000 genomes]
rs2011105	0.81[EUR][1000 genomes]
rs2161581	0.81[EUR][1000 genomes]
rs4626371	1.00[EUR][1000 genomes]
rs57190315	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59778370	0.81[EUR][1000 genomes]
rs632207	0.98[EUR][1000 genomes]
rs666581	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870241	0.81[EUR][1000 genomes]
rs72748633	0.81[EUR][1000 genomes]
rs72748635	0.81[EUR][1000 genomes]
rs72748636	0.81[EUR][1000 genomes]
rs72748638	0.81[EUR][1000 genomes]
rs72748639	0.81[EUR][1000 genomes]
rs72748641	0.81[EUR][1000 genomes]
rs72748646	0.81[EUR][1000 genomes]
rs72748699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750886	0.82[AMR][1000 genomes]
rs72750888	0.82[AMR][1000 genomes]
rs7710353	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7720893	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs989747	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42107200-42108400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:42107800-42109000	Enhancers	Pancreatic Islets	Pancreatic Islet

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