Variant report

Variant	rs7979266
Chromosome Location	chr12:10233077-10233078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1001449	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs10845047	0.85[CHB][hapmap]
rs11053572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11053573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053582	0.94[ASN][1000 genomes]
rs11053587	0.94[ASN][1000 genomes]
rs11053588	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11053590	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs11053592	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs11053597	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs11053603	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs11053613	1.00[CHB][hapmap]
rs11053615	0.85[CHB][hapmap]
rs11053617	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs11533515	0.94[ASN][1000 genomes]
rs11561164	0.95[ASN][1000 genomes]
rs11832093	0.94[ASN][1000 genomes]
rs11838264	0.85[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs12301411	0.95[ASN][1000 genomes]
rs1532087	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs16910075	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291158	0.95[ASN][1000 genomes]
rs2401608	0.90[ASN][1000 genomes]
rs55738961	0.94[ASN][1000 genomes]
rs55767325	0.94[ASN][1000 genomes]
rs59801652	0.87[ASN][1000 genomes]
rs61441743	0.89[ASN][1000 genomes]
rs7137840	0.93[CHD][hapmap]
rs7980801	0.82[YRI][hapmap]

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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7979266	GPRC5D	cis	parietal	SCAN
rs7979266	TAS2R43	cis	cerebellum	SCAN
rs7979266	DDX47	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10219000-10236800	Weak transcription	Left Ventricle	heart
2	chr12:10220800-10234800	Weak transcription	Placenta	Placenta
3	chr12:10221400-10235000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:10222000-10234800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:10222800-10248400	Weak transcription	Psoas Muscle	Psoas
6	chr12:10224000-10234800	Weak transcription	Lung	lung
7	chr12:10228600-10247200	Weak transcription	HUVEC	blood vessel
8	chr12:10231400-10234600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:10232400-10235400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:10232600-10235600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:10232600-10235800	Enhancers	Primary monocytes fromperipheralblood	blood

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