Variant report

Variant	rs2891648
Chromosome Location	chr8:49630150-49630151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090819	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10092718	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10097910	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10101066	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10108023	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10111821	0.84[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1074382	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10808720	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10957199	0.81[CHB][hapmap]
rs1126259	0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11785748	0.83[ASN][1000 genomes]
rs12155607	0.85[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs12548278	0.83[ASW][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap]
rs12550270	0.87[EUR][1000 genomes]
rs13251991	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs13276316	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]
rs1482261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1482262	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs16938731	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1871889	0.85[CHB][hapmap];0.80[JPT][hapmap];0.83[AFR][1000 genomes]
rs4873285	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4873286	0.84[AFR][1000 genomes]
rs4873288	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4873289	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs6472038	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6984858	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs6990865	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7825339	0.85[EUR][1000 genomes]
rs7835152	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900237	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs900238	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs9298058	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9332436	0.81[CHB][hapmap]
rs966703	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2891648	EFCAB1	cis	cerebellum	SCAN
rs2891648	EFCAB1	cis	parietal	SCAN
rs2891648	EFCAB1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49627000-49630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49627000-49647200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:49627800-49647400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:49629000-49632800	Weak transcription	Ovary	ovary
5	chr8:49629200-49636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:49629400-49632200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:49629800-49630800	ZNF genes & repeats	Fetal Lung	lung

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