Variant report

Variant	rs1323816
Chromosome Location	chr1:58217784-58217785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1155492	0.90[EUR][1000 genomes]
rs1323819	0.81[ASN][1000 genomes]
rs1323821	0.83[YRI][hapmap]
rs1323824	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs1323825	0.82[CHB][hapmap]
rs1323827	0.86[CHB][hapmap]
rs2406282	0.86[CHB][hapmap]
rs3118050	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3118053	0.82[CHD][hapmap]
rs3118055	0.80[CHB][hapmap];0.82[CHD][hapmap];0.83[YRI][hapmap]
rs3118058	0.85[CHB][hapmap]
rs3118059	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs3118063	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs3131735	0.88[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131738	0.86[CHB][hapmap]
rs3131740	0.85[CHB][hapmap]
rs3131741	0.82[CHD][hapmap]
rs3131743	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs3131745	0.86[CHB][hapmap]
rs723572	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs927612	0.86[CHB][hapmap]

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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1323816	PARS2	cis	parietal	SCAN
rs1323816	NFIA	cis	cerebellum	SCAN
rs1323816	GADL1	trans	cerebellum	SCAN
rs1323816	YIPF1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58216000-58222000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:58217200-58218200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:58217200-58218200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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