Variant report

Variant	rs71301807
Chromosome Location	chr3:53085475-53085476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11130332	0.89[EUR][1000 genomes]
rs11707576	0.90[EUR][1000 genomes]
rs11708223	0.88[EUR][1000 genomes]
rs13082061	0.87[EUR][1000 genomes]
rs17304995	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246556	0.81[EUR][1000 genomes]
rs2255107	0.81[AMR][1000 genomes]
rs2336162	0.80[EUR][1000 genomes]
rs2336669	0.88[EUR][1000 genomes]
rs2336671	0.87[EUR][1000 genomes]
rs2564947	0.91[EUR][1000 genomes]
rs2581779	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2581780	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2581796	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2581797	0.89[EUR][1000 genomes]
rs2581801	0.89[EUR][1000 genomes]
rs2581802	0.89[EUR][1000 genomes]
rs2581805	0.88[EUR][1000 genomes]
rs2581810	0.85[EUR][1000 genomes]
rs2581815	0.89[EUR][1000 genomes]
rs2581820	0.91[EUR][1000 genomes]
rs2581823	0.90[EUR][1000 genomes]
rs2710345	0.89[EUR][1000 genomes]
rs34230854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35380116	0.86[EUR][1000 genomes]
rs4519686	0.90[EUR][1000 genomes]
rs4687692	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4687699	0.89[EUR][1000 genomes]
rs59989280	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6445550	0.89[EUR][1000 genomes]
rs6768844	0.90[EUR][1000 genomes]
rs6770957	0.91[EUR][1000 genomes]
rs6771610	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6789219	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6792578	0.90[EUR][1000 genomes]
rs6805298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71301803	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621939	0.90[EUR][1000 genomes]
rs7637082	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7644973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648514	0.87[EUR][1000 genomes]
rs7652131	0.91[EUR][1000 genomes]
rs9311485	0.88[EUR][1000 genomes]
rs9812543	0.91[EUR][1000 genomes]
rs9813024	0.86[EUR][1000 genomes]
rs9831409	0.89[EUR][1000 genomes]
rs9842974	0.90[EUR][1000 genomes]
rs9846976	0.90[EUR][1000 genomes]
rs9847024	0.84[EUR][1000 genomes]
rs9865094	0.88[EUR][1000 genomes]
rs9870898	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs71301807	SERBP1P3	cis	lung	GTEx
rs71301807	ITIH4-AS1	cis	lung	GTEx
rs71301807	ITIH4-AS1	cis	Artery Aorta	GTEx
rs71301807	MUSTN1	cis	Artery Aorta	GTEx
rs71301807	ITIH4-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53081800-53086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:53085200-53085600	Enhancers	Brain Hippocampus Middle	brain
3	chr3:53085200-53085600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:53085400-53085800	Enhancers	Brain Anterior Caudate	brain
5	chr3:53085400-53085800	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:53085400-53086200	Bivalent Enhancer	HepG2	liver
7	chr3:53085400-53086600	Enhancers	Pancreas	Pancrea

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