Variant report

Variant	rs12680366
Chromosome Location	chr8:49930674-49930675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10435575	0.82[ASN][1000 genomes]
rs10504073	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10957317	0.89[EUR][1000 genomes]
rs10957363	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11990854	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12545097	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13268440	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1511363	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1567555	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1828495	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1858312	0.82[ASN][1000 genomes]
rs1876717	0.80[EUR][1000 genomes]
rs2137013	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385127	0.91[ASN][1000 genomes]
rs2385229	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385230	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4873093	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873094	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873095	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873099	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4873100	0.81[ASN][1000 genomes]
rs4873303	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873310	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6983929	0.85[CEU][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6984804	1.00[ASW][hapmap];0.81[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005693	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7011891	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013425	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835336	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs974781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12680366	C8orf22	cis	Muscle Skeletal	GTEx
rs12680366	SNTG1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49930400-49931400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49930600-49931000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:49930600-49931000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:49930600-49931000	Enhancers	Fetal Muscle Leg	muscle
5	chr8:49930600-49931400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:49930600-49931400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:49930600-49931600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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