Variant report

Variant	rs13091322
Chromosome Location	chr3:56149492-56149493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12152425	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13058777	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13097220	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13098091	1.00[YRI][hapmap]
rs1485670	0.80[EUR][1000 genomes]
rs1485672	0.81[EUR][1000 genomes]
rs1485673	0.86[CEU][hapmap];0.92[CHB][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap]
rs1519029	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17235410	0.81[EUR][1000 genomes]
rs4974167	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755322	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs7647972	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];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	nsv1013063	chr3:55835413-56173713	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1009709	chr3:56000827-56294945	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13091322	ERC2	cis	cerebellum	SCAN
rs13091322	C3orf51	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56144600-56152200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:56144800-56152400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:56146000-56151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:56147200-56152400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:56147400-56149600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:56147400-56152000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:56147600-56152400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:56147800-56152400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:56148000-56152200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:56148200-56150400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:56149000-56152000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:56149400-56150000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:56149400-56150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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