Variant report

Variant	rs12437331
Chromosome Location	chr1:45632627-45632628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1040839	1.00[ASN][1000 genomes]
rs10498331	1.00[ASN][1000 genomes]
rs11844096	1.00[ASN][1000 genomes]
rs11844257	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11846137	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11846194	1.00[ASN][1000 genomes]
rs11846536	1.00[ASN][1000 genomes]
rs11847511	1.00[ASN][1000 genomes]
rs11847515	1.00[ASN][1000 genomes]
rs11847715	1.00[ASN][1000 genomes]
rs11848312	1.00[ASN][1000 genomes]
rs11848506	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11848999	1.00[ASN][1000 genomes]
rs12431902	1.00[ASN][1000 genomes]
rs12434128	1.00[ASN][1000 genomes]
rs12435977	1.00[ASN][1000 genomes]
rs12436274	1.00[ASN][1000 genomes]
rs12436663	1.00[ASN][1000 genomes]
rs12436672	1.00[ASN][1000 genomes]
rs17103184	1.00[ASN][1000 genomes]
rs2415270	1.00[ASN][1000 genomes]
rs2415271	1.00[ASN][1000 genomes]
rs2415272	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34384582	1.00[ASN][1000 genomes]
rs35239200	1.00[ASN][1000 genomes]
rs4981269	1.00[ASN][1000 genomes]
rs4981271	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4982245	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55758852	1.00[ASN][1000 genomes]
rs55911753	1.00[ASN][1000 genomes]
rs56658608	1.00[ASN][1000 genomes]
rs56994597	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275448	1.00[ASN][1000 genomes]
rs59482644	1.00[ASN][1000 genomes]
rs60871552	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571697	1.00[ASN][1000 genomes]
rs7140254	1.00[ASN][1000 genomes]
rs7141714	1.00[ASN][1000 genomes]
rs7141992	1.00[ASN][1000 genomes]
rs7142246	1.00[ASN][1000 genomes]
rs7144806	1.00[ASN][1000 genomes]
rs7144845	1.00[ASN][1000 genomes]
rs7149841	1.00[ASN][1000 genomes]
rs7150725	1.00[ASN][1000 genomes]
rs7151250	1.00[ASN][1000 genomes]
rs73234501	1.00[ASN][1000 genomes]
rs73236907	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236912	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236913	1.00[ASN][1000 genomes]
rs73236918	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236919	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236938	1.00[ASN][1000 genomes]
rs73236939	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236946	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236950	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73236968	1.00[ASN][1000 genomes]
rs73236982	1.00[ASN][1000 genomes]
rs73236983	1.00[ASN][1000 genomes]
rs73236995	1.00[ASN][1000 genomes]
rs73239016	1.00[ASN][1000 genomes]
rs73239022	1.00[ASN][1000 genomes]
rs73239081	1.00[ASN][1000 genomes]
rs73239096	1.00[ASN][1000 genomes]
rs73240724	1.00[ASN][1000 genomes]
rs74043851	1.00[ASN][1000 genomes]
rs7492529	1.00[ASN][1000 genomes]
rs9743524	1.00[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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv947110	chr1:45627447-45642615	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12437331	ADSL	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45628400-45634800	Weak transcription	Hela-S3	cervix

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