Variant report

Variant	rs2416325
Chromosome Location	chr5:113018908-113018909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10059373	0.94[ASN][1000 genomes]
rs10067803	0.83[ASN][1000 genomes]
rs10447258	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10478138	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957573	0.88[ASN][1000 genomes]
rs12109672	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13170795	0.94[ASN][1000 genomes]
rs13178544	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135859	0.85[ASN][1000 genomes]
rs1871910	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016167	0.88[ASN][1000 genomes]
rs2195367	0.94[ASN][1000 genomes]
rs2416323	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2416324	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2416329	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34045110	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34397886	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34699212	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34783938	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34817468	0.94[ASN][1000 genomes]
rs35039050	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35552641	0.94[ASN][1000 genomes]
rs4329014	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461623	0.94[ASN][1000 genomes]
rs4705467	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705571	0.88[ASN][1000 genomes]
rs4705572	0.88[ASN][1000 genomes]
rs57691496	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66580212	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6881949	0.94[ASN][1000 genomes]
rs71577455	0.94[ASN][1000 genomes]
rs7705489	0.88[ASN][1000 genomes]
rs7707681	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599407	chr5:112981528-113029914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2416325	SRP19	cis	cerebellum	SCAN
rs2416325	CAMK4	cis	parietal	SCAN
rs2416325	AQPEP	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113016600-113026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:113018000-113019000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:113018000-113019000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:113018000-113019000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:113018400-113019000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:113018400-113019000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:113018400-113019200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:113018600-113019000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:113018600-113019400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:113018800-113019200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:113018800-113027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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