Variant report

Variant	rs2332281
Chromosome Location	chr14:70745199-70745200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10220380	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2332278	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2332279	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4331283	0.90[MEX][hapmap];0.84[TSI][hapmap]
rs4899343	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4902811	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4902812	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8018531	0.80[AMR][1000 genomes];0.85[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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2332281	PAPLN	cis	parietal	SCAN
rs2332281	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70735800-70749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70744200-70746800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:70745000-70745800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr14:70745000-70749000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:70745000-70749200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:70745000-70749600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:70745000-70749600	Enhancers	HUES48 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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