Variant report

Variant	rs929866
Chromosome Location	chr16:72038363-72038364
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	chr16:72036596..72038959-chr16:72040320..72042460,3	K562	blood:
2	chr16:72033688..72035258-chr16:72037385..72040082,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263232	Chromatin interaction
ENSG00000187008	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10048111	0.86[ASN][1000 genomes]
rs1035559	0.91[CHD][hapmap]
rs1035560	0.81[ASN][1000 genomes]
rs11642993	0.81[ASN][1000 genomes]
rs11864188	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12599952	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12928732	0.82[YRI][hapmap]
rs13334151	0.86[YRI][hapmap]
rs1465457	0.89[JPT][hapmap]
rs2012817	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278027	0.81[ASN][1000 genomes]
rs2878404	0.92[GIH][hapmap];0.89[JPT][hapmap]
rs3213422	0.89[ASW][hapmap];0.91[CHD][hapmap];0.93[YRI][hapmap];0.85[ASN][1000 genomes]
rs3764310	0.92[GIH][hapmap];0.89[JPT][hapmap]
rs3812987	0.82[YRI][hapmap]
rs3902135	0.82[YRI][hapmap]
rs4788454	1.00[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4788597	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4788598	0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4788600	0.89[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7184169	0.86[YRI][hapmap]
rs7185215	0.83[ASN][1000 genomes]
rs7185407	0.84[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs7186207	0.88[ASW][hapmap];0.91[CHD][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7188058	0.82[YRI][hapmap]
rs7195958	0.84[CHB][hapmap];0.91[CHD][hapmap];0.88[ASN][1000 genomes]
rs7201491	0.81[ASN][1000 genomes]
rs752434	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8044555	0.86[YRI][hapmap]
rs8051239	0.86[ASN][1000 genomes]
rs8062895	0.92[GIH][hapmap];0.89[JPT][hapmap]
rs9941087	0.86[YRI][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	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
5	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
6	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
7	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
8	nsv906894	chr16:72013539-72046211	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	nsv978000	chr16:72037046-72040407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs929866	DHODH	cis	cerebellum	SCAN
rs929866	HP	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72036400-72041800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:72036600-72038600	Weak transcription	HepG2	liver
3	chr16:72037800-72041000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:72038000-72042600	Weak transcription	Gastric	stomach
5	chr16:72038200-72038400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr16:72038200-72038400	Enhancers	K562	blood

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