Variant report

Variant	rs7448221
Chromosome Location	chr5:70748521-70748522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10942466	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10942683	0.88[EUR][1000 genomes]
rs11740849	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11742923	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11744961	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12109984	0.87[ASN][1000 genomes]
rs12110291	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514575	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12658383	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13153636	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13158264	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13165848	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13168805	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13175174	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13185743	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1423358	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs149114	0.86[EUR][1000 genomes]
rs1559260	0.80[AMR][1000 genomes]
rs1698063	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17334377	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs182190	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2059192	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2059193	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2059194	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2059195	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2315534	0.84[ASN][1000 genomes]
rs2432059	0.80[AMR][1000 genomes]
rs2432060	0.80[AMR][1000 genomes]
rs2454086	0.80[AMR][1000 genomes]
rs2646639	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs276592	0.87[EUR][1000 genomes]
rs276594	0.80[AMR][1000 genomes]
rs276597	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs276598	0.87[EUR][1000 genomes]
rs276600	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs276601	0.88[EUR][1000 genomes]
rs277948	0.80[AMR][1000 genomes]
rs279290	0.80[AMR][1000 genomes]
rs279291	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs279322	0.87[EUR][1000 genomes]
rs34029702	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34117302	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35327154	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35420270	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36036841	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3761965	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3761967	0.80[AMR][1000 genomes]
rs384732	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3890749	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs392791	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs410776	0.81[AMR][1000 genomes]
rs418738	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4337836	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs439698	0.80[AMR][1000 genomes]
rs441691	0.80[AMR][1000 genomes]
rs4512120	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs459787	0.81[AMR][1000 genomes]
rs467563	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs467620	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs467901	0.87[EUR][1000 genomes]
rs468128	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4703986	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4704049	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs541035	0.81[AMR][1000 genomes]
rs560394	0.80[AMR][1000 genomes]
rs62374360	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66528760	0.81[ASN][1000 genomes]
rs6871754	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs715748	0.80[AMR][1000 genomes]
rs7442961	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7443763	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7447545	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7448990	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7702940	0.80[AMR][1000 genomes]
rs7726336	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7732361	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7737101	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs986217	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7448221	BDP1	Cis_1M	lymphoblastoid	RTeQTL
rs7448221	RP11-195E2.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70746800-70751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:70747000-70750800	Weak transcription	Pancreas	Pancrea

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