Variant report

Variant	rs759615
Chromosome Location	chr2:56480571-56480572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10188465	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs10490397	0.90[CHB][hapmap]
rs11125618	0.95[CHB][hapmap];0.82[CHD][hapmap];0.88[ASN][1000 genomes]
rs12613716	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12623053	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs12623278	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12713316	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs12993884	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs12994087	0.81[ASN][1000 genomes]
rs12996636	0.85[CHB][hapmap]
rs13012528	0.90[CHB][hapmap]
rs13403828	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs13429808	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs1468914	0.88[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17047656	0.90[CHB][hapmap]
rs17047684	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs17047705	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2111476	0.80[CHB][hapmap]
rs2216325	0.85[CHB][hapmap]
rs35637593	0.82[ASN][1000 genomes]
rs3971875	0.88[ASN][1000 genomes]
rs6710311	0.85[CHB][hapmap]
rs6730327	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs6749100	0.82[CHB][hapmap];0.80[CHD][hapmap]
rs7563888	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7576428	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs7588401	0.88[ASN][1000 genomes]
rs7590310	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs7591193	0.82[ASN][1000 genomes]
rs7591392	0.82[ASN][1000 genomes]
rs7602551	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs9653542	0.82[ASN][1000 genomes]
rs969301	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs969302	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs969303	0.95[CHB][hapmap];0.88[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	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs759615	SPTBN1	cis	cerebellum	SCAN
rs759615	RTN4	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56473000-56487200	Weak transcription	HSMM	muscle
2	chr2:56477000-56483800	Weak transcription	Right Ventricle	heart
3	chr2:56477200-56487400	Weak transcription	Psoas Muscle	Psoas
4	chr2:56480400-56481000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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