Variant report

Variant	rs12708919
Chromosome Location	chr16:71986995-71986996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71977547..71980490-chr16:71985780..71987589,2	K562	blood:
2	chr16:71942932..71945142-chr16:71984421..71987167,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1035543	0.88[ASW][hapmap]
rs10500567	1.00[CHB][hapmap]
rs10852505	1.00[CHB][hapmap]
rs11075910	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs11642529	1.00[CHB][hapmap]
rs11644740	1.00[CHB][hapmap]
rs11648557	1.00[CHB][hapmap]
rs11865456	1.00[CHB][hapmap]
rs12149307	1.00[CHB][hapmap]
rs12149325	1.00[CHB][hapmap]
rs12444594	0.86[EUR][1000 genomes]
rs12445564	1.00[CHB][hapmap]
rs12445641	1.00[CHB][hapmap]
rs12708918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12934512	1.00[CHB][hapmap]
rs17286411	0.81[CEU][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs17357420	1.00[CHB][hapmap]
rs17358402	1.00[CHB][hapmap]
rs1834036	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288030	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs2878494	1.00[CHB][hapmap]
rs35619990	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3751820	1.00[CHB][hapmap]
rs4528577	1.00[CHB][hapmap]
rs4788450	0.96[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4788568	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs4788569	0.81[EUR][1000 genomes]
rs4788575	0.96[CEU][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs4788579	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs7188591	1.00[CHB][hapmap]
rs7195988	1.00[CHB][hapmap]
rs7197486	1.00[CHB][hapmap]
rs7202840	1.00[CHB][hapmap]
rs8050058	1.00[CHB][hapmap]
rs8051878	1.00[CHB][hapmap]
rs9932707	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap]
rs9940234	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
5	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12708919	ZFP1	trans	cerebellum	SCAN
rs12708919	HPR	cis	cerebellum	SCAN
rs12708919	MARVELD3	cis	lymphoblastoid	seeQTL
rs12708919	HP	cis	multi-tissue	Pritchard
rs12708919	PSMD7	cis	parietal	SCAN
rs12708919	HP	cis	brain	seeQTL
rs12708919	TMEM208	cis	parietal	SCAN
rs12708919	PDXDC2P	cis	cerebellum	SCAN
rs12708919	ZFHX3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71986600-71988200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:71986800-71987000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71986800-71988800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:71986800-71989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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