Variant report

Variant	rs72750888
Chromosome Location	chr5:42285544-42285545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10059747	0.98[EUR][1000 genomes]
rs10078935	0.94[EUR][1000 genomes]
rs10472369	0.94[EUR][1000 genomes]
rs11738203	0.89[EUR][1000 genomes]
rs11744111	0.82[AMR][1000 genomes]
rs11744988	0.81[EUR][1000 genomes]
rs11745718	0.84[EUR][1000 genomes]
rs11748224	0.83[EUR][1000 genomes]
rs11748684	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28463913	0.94[EUR][1000 genomes]
rs56395635	0.89[EUR][1000 genomes]
rs56937761	0.87[EUR][1000 genomes]
rs57190315	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57417495	0.89[EUR][1000 genomes]
rs58363453	0.81[EUR][1000 genomes]
rs59193921	0.89[EUR][1000 genomes]
rs66487711	0.87[EUR][1000 genomes]
rs666581	0.91[AMR][1000 genomes]
rs66756362	0.87[EUR][1000 genomes]
rs67526935	0.83[EUR][1000 genomes]
rs67529954	0.87[EUR][1000 genomes]
rs67600650	0.87[EUR][1000 genomes]
rs6887313	0.98[EUR][1000 genomes]
rs72748687	0.82[AMR][1000 genomes]
rs72748699	0.82[AMR][1000 genomes]
rs72750866	0.80[AMR][1000 genomes]
rs72750886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750898	0.98[EUR][1000 genomes]
rs72750901	0.98[EUR][1000 genomes]
rs72753015	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7710353	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7714376	0.94[EUR][1000 genomes]
rs7720893	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7727915	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881000	chr5:42254097-42300305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42280600-42287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:42284400-42285600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:42284600-42285600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:42284800-42286800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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