Variant report

Variant	rs13276316
Chromosome Location	chr8:49642572-49642573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10092718	0.81[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10097910	0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10101066	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10111821	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[ASN][1000 genomes]
rs1074382	0.85[CHB][hapmap]
rs10808720	0.85[CHB][hapmap]
rs10957199	0.81[CHB][hapmap]
rs1126259	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11785748	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12155607	0.85[CHB][hapmap];0.91[CHD][hapmap];0.85[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12548278	0.88[JPT][hapmap]
rs12550270	0.81[ASN][1000 genomes]
rs13251991	0.85[CHB][hapmap]
rs1482261	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1482262	0.85[CHB][hapmap]
rs16938731	0.80[EUR][1000 genomes]
rs1871889	0.85[CHB][hapmap]
rs2384970	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2891648	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35243529	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4873285	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4873288	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55923266	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6984858	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6990865	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7835152	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900237	0.85[CHB][hapmap]
rs900238	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9298058	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9332436	0.81[CHB][hapmap]
rs966703	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.83[AMR][1000 genomes];0.88[ASN][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	esv2615769	chr8:49641614-49643057	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13276316	EFCAB1	cis	cerebellum	SCAN
rs13276316	C8orf22	cis	cerebellum	SCAN
rs13276316	EFCAB1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49627000-49647200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:49627800-49647400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:49633200-49647200	Weak transcription	Ovary	ovary
4	chr8:49639800-49647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:49641200-49644800	Weak transcription	Fetal Lung	lung
6	chr8:49642000-49646800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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