Variant report

Variant	rs12548951
Chromosome Location	chr8:114346137-114346138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10096816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10103599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10108074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs10447963	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10447988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10955650	0.82[JPT][hapmap]
rs10955654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10955655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955656	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12542594	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12545118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1382469	0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1402942	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1402944	0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1480459	0.94[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap]
rs1522061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1551959	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1585720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16892637	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2127690	0.81[JPT][hapmap]
rs2177112	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2219898	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs28522408	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28637150	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4242552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4320578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4333631	0.82[JPT][hapmap]
rs4370561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4403438	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4433179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4437686	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs4607648	0.87[EUR][1000 genomes]
rs6984847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6996176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs6996484	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7001577	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs7002376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7002915	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap]
rs7012271	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs720405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap]
rs720406	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7812921	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7826077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7833144	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9642820	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9643077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9643078	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs984990	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1022803	chr8:114180224-114354093	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv971605	chr8:114332636-114356338	Inactive region	Chromatin interactive region	n/a	n/a	diseases
4	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12548951	CSMD3	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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