Variant report

Variant	rs17667639
Chromosome Location	chr16:72199083-72199084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11554764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11648622	1.00[YRI][hapmap]
rs12920842	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12923749	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12925943	0.82[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12926119	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12926250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12927014	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12928056	0.92[ASN][1000 genomes]
rs12929993	0.81[EUR][1000 genomes]
rs12933482	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17588429	1.00[CHB][hapmap]
rs17590101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17603662	1.00[JPT][hapmap]
rs17604662	0.92[ASN][1000 genomes]
rs17604676	0.92[ASN][1000 genomes]
rs17666271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17667675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35079155	0.96[ASN][1000 genomes]
rs35448862	0.88[ASN][1000 genomes]
rs35930480	0.92[ASN][1000 genomes]
rs36012445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36061252	0.89[ASN][1000 genomes]
rs36125653	1.00[ASN][1000 genomes]
rs3815192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4788606	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4788612	0.88[ASN][1000 genomes]
rs55772151	0.88[ASN][1000 genomes]
rs56901884	0.81[ASN][1000 genomes]
rs59049640	0.81[ASN][1000 genomes]
rs60449783	0.81[ASN][1000 genomes]
rs61060922	0.88[ASN][1000 genomes]
rs61258384	0.81[ASN][1000 genomes]
rs61404039	0.81[ASN][1000 genomes]
rs71386950	0.88[ASN][1000 genomes]
rs71386951	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184117	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7191673	1.00[YRI][hapmap]
rs74029810	0.81[ASN][1000 genomes]
rs74029814	0.81[ASN][1000 genomes]
rs74029815	0.81[ASN][1000 genomes]
rs74029840	0.88[ASN][1000 genomes]
rs8057016	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8058214	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8061140	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8182209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9652628	1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17667639	HPR	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72194600-72206200	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72196600-72201200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:72198400-72199400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:72199000-72203600	Weak transcription	Fetal Brain Female	brain
5	chr16:72199000-72204400	Weak transcription	Fetal Brain Male	brain

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