Variant report

Variant	rs4873093
Chromosome Location	chr8:49974740-49974741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49972978..49975777-chr8:49977348..49979719,2	K562	blood:
2	chr8:49966430..49970191-chr8:49971384..49975225,5	K562	blood:

Variant related genes	Relation type
ENSG00000168333	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10435575	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10504073	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957317	0.83[EUR][1000 genomes]
rs10957357	0.84[ASW][hapmap];1.00[YRI][hapmap]
rs10957363	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11990854	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12545097	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680366	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13268440	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13270448	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1511363	0.85[EUR][1000 genomes]
rs1567555	0.83[EUR][1000 genomes]
rs1828495	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1858312	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2137013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385127	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385229	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385230	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873092	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs4873094	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873095	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873099	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873100	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873303	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873308	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4873310	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6983929	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984804	0.84[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7005693	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011891	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7013425	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835336	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974781	0.92[EUR][1000 genomes];0.91[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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4873093	SNTG1	cis	cerebellum	SCAN
rs4873093	C8orf22	cis	Muscle Skeletal	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49972000-49977800	Weak transcription	Psoas Muscle	Psoas
2	chr8:49974600-49974800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:49974600-49979600	Enhancers	Adipose Nuclei	Adipose

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