Variant report

Variant	rs2162846
Chromosome Location	chr5:113019569-113019570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10478138	0.81[AMR][1000 genomes]
rs2416328	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4461623	0.96[AMR][1000 genomes];0.99[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2162846	CAMK4	cis	parietal	SCAN
rs2162846	AQPEP	cis	cerebellum	SCAN

Chromatin state (count:6 , 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	chr5:113018800-113027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:113019000-113028000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:113019200-113020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:113019200-113021000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:113019400-113022400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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