Variant report

Variant	rs12667373
Chromosome Location	chr7:65654175-65654176
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	chr7:65649367..65652359-chr7:65653960..65655617,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10807699	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10807701	0.82[AMR][1000 genomes]
rs10950032	0.82[AMR][1000 genomes]
rs12530490	0.83[AMR][1000 genomes]
rs1499613	0.82[AMR][1000 genomes]
rs1499614	0.82[AMR][1000 genomes]
rs1546059	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1553174	0.82[AMR][1000 genomes]
rs1873494	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1979823	0.84[AMR][1000 genomes]
rs2243480	0.82[AMR][1000 genomes]
rs2257790	0.81[AMR][1000 genomes]
rs2420170	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420171	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2420172	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460422	0.82[AMR][1000 genomes]
rs2460425	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2460426	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2460431	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2465120	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs316304	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs316317	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316318	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316321	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316322	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316325	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316326	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316327	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316329	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs316331	0.82[AMR][1000 genomes]
rs316334	0.82[AMR][1000 genomes]
rs387676	0.82[AMR][1000 genomes]
rs4145008	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs419603	0.82[AMR][1000 genomes]
rs4236207	0.89[AMR][1000 genomes]
rs431076	0.82[AMR][1000 genomes]
rs4481472	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718309	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718315	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718316	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718317	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6460274	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6460277	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958289	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958420	0.81[AMR][1000 genomes]
rs6959002	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6966322	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974723	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7778911	0.84[AMR][1000 genomes]
rs7787230	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7804223	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7808834	0.84[AMR][1000 genomes]
rs958550	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9769882	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12667373	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs12667373	RP4-756H11.3	cis	lung	GTEx
rs12667373	VKORC1L1	cis	Whole Blood	GTEx
rs12667373	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs12667373	GUSB	cis	Whole Blood	GTEx
rs12667373	ASL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65650000-65654600	Weak transcription	HepG2	liver
2	chr7:65652400-65656200	Enhancers	Liver	Liver
3	chr7:65652800-65660600	Weak transcription	Spleen	Spleen
4	chr7:65653000-65655000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:65653400-65654800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:65653400-65654800	Weak transcription	NHDF-Ad	bronchial
7	chr7:65653400-65655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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