Variant report

Variant	rs12680028
Chromosome Location	chr8:110123183-110123184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10086023	0.84[ASN][1000 genomes]
rs10090944	0.83[ASN][1000 genomes]
rs10098145	0.84[ASN][1000 genomes]
rs10505126	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955505	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778370	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11785269	0.84[ASN][1000 genomes]
rs12543246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12544197	0.80[ASN][1000 genomes]
rs12544462	0.82[ASN][1000 genomes]
rs12679311	0.84[ASN][1000 genomes]
rs13254233	0.82[ASN][1000 genomes]
rs13269597	0.84[ASN][1000 genomes]
rs16892486	0.82[ASN][1000 genomes]
rs16892496	0.82[ASN][1000 genomes]
rs3134105	0.87[AFR][1000 genomes]
rs34092076	0.82[ASN][1000 genomes]
rs3925087	0.83[ASN][1000 genomes]
rs3925088	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4129682	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130682	0.83[ASN][1000 genomes]
rs4236801	0.84[ASN][1000 genomes]
rs4236802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4301422	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4342559	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4446710	0.84[ASN][1000 genomes]
rs4464939	0.83[ASN][1000 genomes]
rs4546626	0.84[ASN][1000 genomes]
rs4734190	0.84[ASN][1000 genomes]
rs4734192	0.84[ASN][1000 genomes]
rs4734193	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734194	0.81[ASN][1000 genomes]
rs4734195	0.81[ASN][1000 genomes]
rs4735091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735094	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735095	0.84[ASN][1000 genomes]
rs5778	0.84[ASN][1000 genomes]
rs6469235	0.83[ASN][1000 genomes]
rs6469241	0.82[ASN][1000 genomes]
rs6996836	0.82[ASN][1000 genomes]
rs7821463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823804	0.84[ASN][1000 genomes]
rs7828207	0.84[ASN][1000 genomes]
rs7832552	0.83[ASN][1000 genomes]
rs7840000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844643	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022273	chr8:110026712-110146600	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv539715	chr8:110026712-110146600	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12680028	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110121200-110124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:110121400-110123600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110121400-110144600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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