Variant report

Variant	rs929968
Chromosome Location	chr4:55036599-55036600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1017280	0.84[EUR][1000 genomes]
rs11133309	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11725470	0.84[EUR][1000 genomes]
rs12506808	0.81[EUR][1000 genomes]
rs12507253	0.86[EUR][1000 genomes]
rs12510014	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12512002	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12648383	0.84[EUR][1000 genomes]
rs13112338	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13131948	0.84[EUR][1000 genomes]
rs13145280	0.86[ASN][1000 genomes]
rs13148062	0.84[EUR][1000 genomes]
rs1364989	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs34797391	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35422368	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35511042	0.84[EUR][1000 genomes]
rs35638196	0.81[MEX][hapmap]
rs36035401	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41386153	0.81[MEX][hapmap]
rs4864853	0.83[EUR][1000 genomes]
rs6554148	0.81[MEX][hapmap]
rs6811249	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6842144	0.82[EUR][1000 genomes]
rs6842584	1.00[CEU][hapmap];0.94[TSI][hapmap]
rs6850083	0.83[EUR][1000 genomes]
rs71597863	0.86[EUR][1000 genomes]
rs71597864	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71597865	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7659453	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659654	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7667373	0.84[EUR][1000 genomes]
rs7676108	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677077	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677087	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9994577	0.91[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	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv523058	chr4:55018617-55045716	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs929968	EXOC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55032000-55037000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:55032400-55039600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:55033000-55037800	Weak transcription	HSMM	muscle
4	chr4:55036200-55036600	Enhancers	Aorta	Aorta

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