Variant report

Variant	rs4788614
Chromosome Location	chr16:72188828-72188829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11640722	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641721	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11645898	0.88[EUR][1000 genomes]
rs11648479	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11648622	0.96[GIH][hapmap]
rs12325171	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs12325593	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs13334681	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs13335854	0.89[YRI][hapmap]
rs16973640	1.00[YRI][hapmap]
rs16973723	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs17603936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17604349	1.00[GIH][hapmap]
rs1820248	1.00[CHB][hapmap]
rs28419077	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213419	1.00[CHB][hapmap]
rs3213423	1.00[CHB][hapmap]
rs34656481	0.89[EUR][1000 genomes]
rs34832584	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35370634	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35746112	0.84[EUR][1000 genomes]
rs3812985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852785	0.88[EUR][1000 genomes]
rs4788459	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4788460	0.83[GIH][hapmap]
rs4788463	0.84[EUR][1000 genomes]
rs4788605	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4788611	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788615	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5468	1.00[JPT][hapmap]
rs55955726	0.84[EUR][1000 genomes]
rs7184834	0.95[YRI][hapmap]
rs7186117	0.95[YRI][hapmap]
rs7188150	0.85[LWK][hapmap];0.95[YRI][hapmap]
rs7189506	0.94[YRI][hapmap]
rs7189654	0.95[YRI][hapmap]
rs7191270	1.00[YRI][hapmap]
rs7203195	0.95[YRI][hapmap]
rs7206422	0.90[EUR][1000 genomes]
rs72787070	0.92[EUR][1000 genomes]
rs72787077	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72787078	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72787085	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787091	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72787093	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787094	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72791112	0.87[EUR][1000 genomes]
rs72791115	0.91[EUR][1000 genomes]
rs72791117	0.85[EUR][1000 genomes]
rs72791120	0.85[EUR][1000 genomes]
rs72791121	0.89[EUR][1000 genomes]
rs8045316	0.80[LWK][hapmap];0.95[YRI][hapmap]
rs8047881	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8051438	0.81[AFR][1000 genomes]
rs8056752	1.00[YRI][hapmap]
rs8057379	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs8061292	0.95[YRI][hapmap]
rs9921752	0.95[YRI][hapmap]
rs9925476	0.84[YRI][hapmap]
rs9925493	1.00[YRI][hapmap]
rs9932236	0.84[YRI][hapmap]
rs9940996	0.90[LWK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs9972770	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4788614	HP	cis	multi-tissue	Pritchard
rs4788614	PMFBP1	cis	multi-tissue	Pritchard
rs4788614	HP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72172400-72193000	Weak transcription	HepG2	liver

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