Variant report

Variant	rs17324947
Chromosome Location	chr7:3852261-3852262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10256504	1.00[CHB][hapmap]
rs10274618	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10951322	0.85[JPT][hapmap]
rs11772118	0.81[ASN][1000 genomes]
rs12113979	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155211	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12155451	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12531980	0.84[JPT][hapmap]
rs12531984	1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.89[MKK][hapmap];0.94[YRI][hapmap];0.90[ASN][1000 genomes]
rs12539695	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.89[MKK][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12690803	0.86[CHB][hapmap]
rs1548613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1548617	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17133859	0.84[JPT][hapmap]
rs17259867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17259924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17325157	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17325709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56316331	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56403834	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56863187	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58215957	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60438481	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62437947	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67200393	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67724049	0.97[ASN][1000 genomes]
rs6943646	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6945255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6945778	0.85[JPT][hapmap]
rs6946432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6955230	0.87[CEU][hapmap];0.82[MKK][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6961230	0.85[JPT][hapmap]
rs6976827	1.00[CHB][hapmap]
rs6977475	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6978305	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73032391	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73032394	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73034490	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73036418	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73036421	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73310047	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs768721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7791274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917168	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1021443	chr7:3705273-3889334	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2756505	chr7:3789992-3856544	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv605938	chr7:3792038-3852261	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2762640	chr7:3838745-3856544	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17324947	RBAK	cis	cerebellum	SCAN
rs17324947	ELFN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3827000-3857200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3830800-3859800	Weak transcription	Pancreas	Pancrea
3	chr7:3848400-3882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3849400-3880600	Weak transcription	Aorta	Aorta

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