Variant report

Variant	rs2162421
Chromosome Location	chr8:67259307-67259308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10088592	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1025228	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs1030419	0.85[EUR][1000 genomes]
rs10957372	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541098	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1426910	0.87[EUR][1000 genomes]
rs1426912	0.87[EUR][1000 genomes]
rs1426913	0.87[EUR][1000 genomes]
rs1543907	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559885	0.88[ASN][1000 genomes]
rs1963852	0.86[EUR][1000 genomes]
rs2081649	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2357895	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2465982	0.93[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2465984	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2465985	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs2555565	0.83[EUR][1000 genomes]
rs2555575	0.96[CEU][hapmap];0.89[JPT][hapmap]
rs2718988	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs2718990	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs2719006	0.93[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap]
rs2719009	0.86[EUR][1000 genomes]
rs4737786	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6472269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002723	0.90[ASN][1000 genomes]
rs753082	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs7819605	0.87[EUR][1000 genomes]
rs7845448	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890515	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs890516	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs977467	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2162421	ADHFE1	cis	Whole Blood	GTEx
rs2162421	C8orf46	cis	Artery Tibial	GTEx
rs2162421	ADHFE1	cis	Muscle Skeletal	GTEx
rs2162421	C8orf46	cis	Thyroid	GTEx
rs2162421	C8orf46	cis	Skin Sun Exposed Lower leg	GTEx
rs2162421	C8orf46	cis	Esophagus Muscularis	GTEx
rs2162421	ADHFE1	cis	Artery Tibial	GTEx
rs2162421	C8orf46	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67252600-67266800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67253800-67259600	Enhancers	Placenta	Placenta
3	chr8:67256200-67260800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:67257000-67260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:67257200-67264600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67257400-67264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:67257800-67259600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:67258200-67260600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:67258400-67260800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:67258600-67261800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:67259200-67260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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