Variant report

Variant	rs452257
Chromosome Location	chr12:42000487-42000488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs286980	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286983	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286984	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286986	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs287033	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365385	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs366554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366959	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs377371	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs387546	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441162	0.96[ASN][1000 genomes]
rs7138511	1.00[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs452257	PDZRN4	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41998000-42000600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:41998400-42001400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41998600-42001200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:41998800-42001000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:41998800-42001000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:41998800-42001200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:41998800-42001200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:41998800-42001200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:41998800-42001200	Enhancers	Fetal Kidney	kidney
10	chr12:41998800-42001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:41998800-42001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:41998800-42001400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:41999000-42000600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:41999200-42001400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:41999400-42001200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:41999600-42001200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:41999600-42001200	Enhancers	Brain Germinal Matrix	brain
18	chr12:41999800-42001200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:42000200-42001000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:42000200-42003800	Weak transcription	H9 Cell Line	embryonic stem cell

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