Variant report

Variant	rs11628786
Chromosome Location	chr14:70660304-70660305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70660253-70660354	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SLC8A3	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11621233	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11622454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11623788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11623909	0.86[AMR][1000 genomes]
rs11626919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879701	1.00[AFR][1000 genomes]
rs12880065	1.00[AFR][1000 genomes]
rs12889575	1.00[AFR][1000 genomes]
rs12890852	1.00[AFR][1000 genomes]
rs12891402	1.00[AFR][1000 genomes]
rs12898006	1.00[AFR][1000 genomes]
rs1593376	0.87[EUR][1000 genomes]
rs17474359	1.00[AFR][1000 genomes]
rs17566989	1.00[AFR][1000 genomes]
rs2162125	0.81[EUR][1000 genomes]
rs2296918	0.85[EUR][1000 genomes]
rs2332272	1.00[CHB][hapmap]
rs34506335	1.00[AFR][1000 genomes]
rs34668417	1.00[AFR][1000 genomes]
rs35034872	1.00[AFR][1000 genomes]
rs35224988	1.00[AFR][1000 genomes]
rs35547503	1.00[AFR][1000 genomes]
rs35697534	1.00[AFR][1000 genomes]
rs4902794	0.87[EUR][1000 genomes]
rs55692830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56113470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67417438	1.00[AFR][1000 genomes]
rs7153452	0.87[EUR][1000 genomes]
rs72731861	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72731896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72731898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72733703	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72733705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72733709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72733718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72733725	1.00[AFR][1000 genomes]
rs72733739	1.00[AFR][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11628786	COX16	cis	Muscle Skeletal	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70657200-70661000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70659600-70660400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:70660200-70660800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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