Variant report

Variant	rs34668417
Chromosome Location	chr14:70747201-70747202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11623231	1.00[AFR][1000 genomes]
rs11623788	1.00[AFR][1000 genomes]
rs11626919	1.00[AFR][1000 genomes]
rs11628786	1.00[AFR][1000 genomes]
rs11629081	1.00[AFR][1000 genomes]
rs12879701	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12880065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12889575	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12889618	0.82[EUR][1000 genomes]
rs12890852	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12891402	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12897297	0.82[EUR][1000 genomes]
rs12898006	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17474359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566989	1.00[AFR][1000 genomes]
rs28617626	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696763	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34506335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34981619	0.82[EUR][1000 genomes]
rs35034872	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35224988	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35543989	0.82[EUR][1000 genomes]
rs35547503	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35660795	1.00[ASN][1000 genomes]
rs35697534	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55692830	1.00[AFR][1000 genomes]
rs55812665	0.82[EUR][1000 genomes]
rs56113470	1.00[AFR][1000 genomes]
rs61979508	1.00[ASN][1000 genomes]
rs67417438	1.00[AFR][1000 genomes]
rs72731878	1.00[AFR][1000 genomes]
rs72731882	1.00[AFR][1000 genomes]
rs72731883	1.00[AFR][1000 genomes]
rs72731885	1.00[AFR][1000 genomes]
rs72731887	1.00[AFR][1000 genomes]
rs72731896	1.00[AFR][1000 genomes]
rs72731898	1.00[AFR][1000 genomes]
rs72733705	1.00[AFR][1000 genomes]
rs72733709	1.00[AFR][1000 genomes]
rs72733718	1.00[AFR][1000 genomes]
rs72733725	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733739	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34668417	COX16	cis	Muscle Skeletal	GTEx
rs34668417	COX16	cis	Heart Left Ventricle	GTEx
rs34668417	RP11-718G2.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70735800-70749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70745000-70749000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:70745000-70749200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:70745000-70749600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:70745000-70749600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:70745200-70749400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:70745200-70749600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:70745800-70750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:70746000-70749600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:70746200-70747600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:70746800-70747800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:70746800-70748600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:70747000-70747400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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