Variant report

Variant	rs1830084
Chromosome Location	chr3:133508464-133508465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133487018..133489048-chr3:133506905..133509530,2	K562	blood:
2	chr3:133507858..133509581-chr3:133515622..133517840,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11710936	1.00[CHB][hapmap]
rs12490148	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12595	0.91[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes]
rs13079426	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525889	0.88[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs1534165	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1830083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293375	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs34252038	0.82[AMR][1000 genomes]
rs34805309	0.81[AMR][1000 genomes]
rs35332919	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811647	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs3811658	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs4854760	0.88[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4854761	0.88[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4854762	0.80[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6794945	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217233	0.85[ASN][1000 genomes]
rs7638018	0.88[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes]
rs8177224	0.91[MEX][hapmap]
rs8177240	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs8177245	0.81[AMR][1000 genomes]
rs8177248	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs8177252	0.88[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs8177253	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs8177260	0.81[EUR][1000 genomes]
rs8177262	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap]
rs8177271	0.81[AMR][1000 genomes]
rs8177272	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs8177295	0.81[AMR][1000 genomes]
rs9813689	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843728	0.92[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9871148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1005045	chr3:133501591-133510973	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Iron status biomarkers	19084217	GWAS catalog

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1830084	SRPRB	cis	parietal	SCAN
rs1830084	SRPRB	cis	multi-tissue	Pritchard
rs1830084	TOPBP1	cis	parietal	SCAN
rs1830084	SRPRB	cis	brain	BrainEAC
rs1830084	SRPRB	cis	intralobular white matter	BrainEAC

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133498600-133510400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:133499000-133510800	Weak transcription	Brain Hippocampus Middle	brain

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