Variant report

Variant	rs2085314
Chromosome Location	chr12:42654820-42654821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785335	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785337	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10880275	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880279	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880280	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880282	0.81[EUR][1000 genomes]
rs1118483	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12425945	0.80[EUR][1000 genomes]
rs1683195	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17091052	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1826387	0.84[EUR][1000 genomes]
rs1961953	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2061191	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2061192	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2198763	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2605401	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4402364	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4417370	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768398	0.80[EUR][1000 genomes]
rs6582385	0.82[EUR][1000 genomes]
rs6582386	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6582389	0.84[EUR][1000 genomes]
rs6582392	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs712126	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs712127	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7298965	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7302687	0.84[EUR][1000 genomes]
rs7486516	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7956016	0.84[EUR][1000 genomes]
rs7959339	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7960176	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7975518	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs824742	0.89[AMR][1000 genomes];0.80[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	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	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3397788	chr12:42636734-42665519	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2085314	PPHLN1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42650200-42655600	Weak transcription	Hela-S3	cervix
2	chr12:42654200-42660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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