Variant report

Variant	rs12371762
Chromosome Location	chr12:42682351-42682352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10459290	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10492388	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1059360	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10785333	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785334	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880256	0.81[ASN][1000 genomes]
rs10880258	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880259	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880260	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880261	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880264	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880268	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10880269	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880272	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880273	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880283	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10880294	0.81[EUR][1000 genomes]
rs11181364	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11181378	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11181380	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11181398	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181399	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181422	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11181454	0.83[EUR][1000 genomes]
rs11181463	0.83[EUR][1000 genomes]
rs11181465	0.83[EUR][1000 genomes]
rs11181466	0.83[EUR][1000 genomes]
rs11181467	0.83[EUR][1000 genomes]
rs11181483	0.83[EUR][1000 genomes]
rs11181499	0.83[EUR][1000 genomes]
rs11181501	0.81[EUR][1000 genomes]
rs11181502	0.81[EUR][1000 genomes]
rs12049942	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228205	0.83[EUR][1000 genomes]
rs12308219	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12366848	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370778	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12371615	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12815283	0.84[EUR][1000 genomes]
rs12820154	0.81[EUR][1000 genomes]
rs1669892	0.83[EUR][1000 genomes]
rs1669893	0.81[EUR][1000 genomes]
rs1669904	0.82[EUR][1000 genomes]
rs1669910	0.82[EUR][1000 genomes]
rs1669936	0.83[EUR][1000 genomes]
rs1796380	0.83[EUR][1000 genomes]
rs1796384	0.82[EUR][1000 genomes]
rs1796386	0.82[EUR][1000 genomes]
rs1796388	0.81[EUR][1000 genomes]
rs1796394	0.81[EUR][1000 genomes]
rs1839935	0.81[EUR][1000 genomes]
rs2178753	0.84[EUR][1000 genomes]
rs2406567	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2406568	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2406674	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2708058	0.82[EUR][1000 genomes]
rs3747558	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3747560	0.83[EUR][1000 genomes]
rs3810793	0.84[EUR][1000 genomes]
rs4768399	0.82[EUR][1000 genomes]
rs4768402	0.83[EUR][1000 genomes]
rs55702525	0.82[EUR][1000 genomes]
rs56290913	0.84[EUR][1000 genomes]
rs61926593	0.81[EUR][1000 genomes]
rs6582390	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6582391	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6582395	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138877	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71453350	0.84[EUR][1000 genomes]
rs7296357	0.84[EUR][1000 genomes]
rs7315968	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7957471	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965743	0.83[EUR][1000 genomes]
rs7974476	0.81[ASN][1000 genomes]
rs7974654	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9668610	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv973058	chr12:42680924-42683836	Enhancers	lncRNA	n/a	inside rSNPs	diseases
6	esv1809322	chr12:42682065-42699107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12371762	PPHLN1	Cis_1M	lymphoblastoid	RTeQTL
rs12371762	PRICKLE1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42682200-42682800	Enhancers	Placenta	Placenta

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