Variant report

Variant	rs6445557
Chromosome Location	chr3:53083969-53083970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr3:53083925-53084378	A549	lung:	n/a	chr3:53084074-53084089 chr3:53084068-53084075

Variant related genes	Relation type
SFMBT1	TF binding region
ENSG00000266635	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10510761	0.87[EUR][1000 genomes]
rs11706035	0.87[EUR][1000 genomes]
rs11707575	0.93[EUR][1000 genomes]
rs11707780	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710292	0.93[EUR][1000 genomes]
rs11710394	0.87[EUR][1000 genomes]
rs11710707	0.87[EUR][1000 genomes]
rs11711773	0.91[EUR][1000 genomes]
rs11712653	0.98[EUR][1000 genomes]
rs11713171	0.98[EUR][1000 genomes]
rs11713206	0.87[EUR][1000 genomes]
rs11713290	0.87[EUR][1000 genomes]
rs11713859	0.91[EUR][1000 genomes]
rs11714037	0.87[EUR][1000 genomes]
rs11714876	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11714902	0.93[EUR][1000 genomes]
rs11715231	0.82[EUR][1000 genomes]
rs11717132	0.87[EUR][1000 genomes]
rs11717619	0.87[EUR][1000 genomes]
rs11717715	0.87[EUR][1000 genomes]
rs11718388	0.98[EUR][1000 genomes]
rs11718538	0.86[EUR][1000 genomes]
rs11718752	0.93[EUR][1000 genomes]
rs11718834	0.87[EUR][1000 genomes]
rs11720191	0.87[EUR][1000 genomes]
rs13058817	0.91[EUR][1000 genomes]
rs13069006	0.87[EUR][1000 genomes]
rs13072395	0.87[EUR][1000 genomes]
rs13072457	0.93[EUR][1000 genomes]
rs13072818	0.98[EUR][1000 genomes]
rs13074524	0.87[EUR][1000 genomes]
rs13078834	0.87[EUR][1000 genomes]
rs13078971	0.93[EUR][1000 genomes]
rs13084937	0.93[EUR][1000 genomes]
rs13085514	0.93[EUR][1000 genomes]
rs13085544	0.89[EUR][1000 genomes]
rs13091844	0.87[EUR][1000 genomes]
rs13092352	0.86[EUR][1000 genomes]
rs13320044	0.93[EUR][1000 genomes]
rs1346719	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1560333	0.85[ASN][1000 genomes]
rs17052727	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2336540	0.87[EUR][1000 genomes]
rs2336541	0.87[EUR][1000 genomes]
rs2564926	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2564941	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2581807	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3097417	0.95[EUR][1000 genomes]
rs34121720	0.98[EUR][1000 genomes]
rs34238610	0.93[EUR][1000 genomes]
rs34244302	0.93[EUR][1000 genomes]
rs34313969	0.87[EUR][1000 genomes]
rs34340609	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34493168	0.87[EUR][1000 genomes]
rs34754279	0.87[EUR][1000 genomes]
rs34872575	0.87[EUR][1000 genomes]
rs34933390	0.87[EUR][1000 genomes]
rs34943350	0.87[EUR][1000 genomes]
rs34979715	0.93[EUR][1000 genomes]
rs35076015	0.93[EUR][1000 genomes]
rs35163227	0.93[EUR][1000 genomes]
rs35174175	0.93[EUR][1000 genomes]
rs35230793	0.82[EUR][1000 genomes]
rs35378159	0.87[EUR][1000 genomes]
rs35384050	0.87[EUR][1000 genomes]
rs35385050	0.87[EUR][1000 genomes]
rs35507120	0.93[EUR][1000 genomes]
rs35720014	0.87[EUR][1000 genomes]
rs35737577	0.87[EUR][1000 genomes]
rs35849389	0.87[EUR][1000 genomes]
rs36090694	0.87[EUR][1000 genomes]
rs3796352	0.82[EUR][1000 genomes]
rs3806692	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821872	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4478072	0.93[EUR][1000 genomes]
rs58515094	0.87[EUR][1000 genomes]
rs58660500	0.98[EUR][1000 genomes]
rs59583591	0.93[EUR][1000 genomes]
rs60887045	0.87[EUR][1000 genomes]
rs60942590	0.87[EUR][1000 genomes]
rs61172708	0.87[EUR][1000 genomes]
rs6445555	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445556	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71299622	0.82[EUR][1000 genomes]
rs71301804	0.96[EUR][1000 genomes]
rs71301808	0.98[EUR][1000 genomes]
rs71301809	0.93[EUR][1000 genomes]
rs71301811	0.91[EUR][1000 genomes]
rs71301814	0.93[EUR][1000 genomes]
rs71617204	0.93[EUR][1000 genomes]
rs750474	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622420	0.93[EUR][1000 genomes]
rs7625448	0.93[EUR][1000 genomes]
rs7640293	0.93[EUR][1000 genomes]
rs7645611	0.93[EUR][1000 genomes]
rs9756317	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9875573	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv590347	chr3:53079048-53088815	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6445557	TMEM110	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53080600-53084000	Weak transcription	HepG2	liver
2	chr3:53080800-53084400	Weak transcription	HSMMtube	muscle
3	chr3:53081000-53085400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53081200-53085200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:53081200-53085200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:53081200-53085400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:53081200-53085400	Weak transcription	Pancreas	Pancrea
8	chr3:53081800-53086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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