Variant report

Variant	rs6793693
Chromosome Location	chr3:161290167-161290168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:161288935..161292971-chr3:161293220..161296787,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1399906	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1399908	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1399909	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1399910	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1399915	0.82[EUR][1000 genomes]
rs1399916	0.86[EUR][1000 genomes]
rs1450524	0.80[TSI][hapmap]
rs1515741	0.86[EUR][1000 genomes]
rs1515743	0.86[EUR][1000 genomes]
rs1568020	0.84[EUR][1000 genomes]
rs1597494	0.83[EUR][1000 genomes]
rs1601199	0.85[EUR][1000 genomes]
rs16832928	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1850000	0.86[EUR][1000 genomes]
rs1878064	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2203490	0.83[EUR][1000 genomes]
rs4305435	0.84[EUR][1000 genomes]
rs4856709	0.84[EUR][1000 genomes]
rs4856712	0.82[EUR][1000 genomes]
rs6441393	0.84[EUR][1000 genomes]
rs6762110	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs6781716	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7620901	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7621711	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7625210	0.80[TSI][hapmap]
rs7629214	0.84[EUR][1000 genomes]
rs7641444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651540	0.86[TSI][hapmap]
rs9290088	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs977380	0.86[EUR][1000 genomes]
rs9868834	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9871565	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9872386	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9876363	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9876608	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9877938	0.86[EUR][1000 genomes]
rs9883089	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
2	nsv829773	chr3:161150422-161315189	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829774	chr3:161229405-161386919	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2422309	chr3:161242389-161425932	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877711	chr3:161275848-161486665	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6793693	C3orf57	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161286800-161294800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:161287000-161294600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:161289600-161294200	Weak transcription	Fetal Muscle Leg	muscle

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