Variant report

Variant	rs4682124
Chromosome Location	chr3:112597844-112597845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10804507	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11928072	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1812704	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1919015	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2399438	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2399439	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2399440	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682121	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4682122	1.00[ASN][1000 genomes]
rs4682123	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4682438	1.00[CEU][hapmap]
rs4682439	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4682446	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6438108	0.92[YRI][hapmap]
rs66682130	0.98[ASN][1000 genomes]
rs66732921	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66948543	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67184855	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67562655	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6767131	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6781132	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6802964	0.82[AMR][1000 genomes]
rs6808401	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73225776	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73227704	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73227765	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7634588	0.91[AMR][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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3501334	chr3:112546820-112648766	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3501335	chr3:112546820-112648766	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4682124	C3orf17	cis	cerebellum	SCAN
rs4682124	SLC9A10	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112597400-112598400	Enhancers	GM12878-XiMat	blood

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