Variant report

Variant	rs7189331
Chromosome Location	chr16:72643143-72643144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1001493	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1006805	0.94[EUR][1000 genomes]
rs10468266	0.89[EUR][1000 genomes]
rs10852514	0.84[AFR][1000 genomes]
rs11641842	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11646282	0.82[AMR][1000 genomes]
rs11860023	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12051542	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12325146	0.85[EUR][1000 genomes]
rs12325151	0.85[EUR][1000 genomes]
rs12445296	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12445443	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12596611	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12598536	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12598598	0.84[AFR][1000 genomes]
rs12599375	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12708933	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13333122	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs13335806	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1429072	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1560278	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971030	0.89[EUR][1000 genomes]
rs16971035	0.87[EUR][1000 genomes]
rs16971036	0.87[EUR][1000 genomes]
rs16971037	0.85[EUR][1000 genomes]
rs16971050	0.87[EUR][1000 genomes]
rs16971112	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16971114	0.83[EUR][1000 genomes]
rs17287903	0.92[EUR][1000 genomes]
rs17359949	0.92[EUR][1000 genomes]
rs17608557	0.83[CEU][hapmap]
rs17609544	0.85[EUR][1000 genomes]
rs17609577	0.85[EUR][1000 genomes]
rs17609787	0.87[EUR][1000 genomes]
rs17609808	0.87[EUR][1000 genomes]
rs17677484	0.87[EUR][1000 genomes]
rs17677616	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17677890	0.87[EUR][1000 genomes]
rs17841357	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1864229	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2079161	0.85[AFR][1000 genomes]
rs2158265	0.84[AFR][1000 genomes]
rs2163068	0.89[EUR][1000 genomes]
rs2358801	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28677977	0.84[AFR][1000 genomes]
rs2905697	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2905699	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2914769	0.84[AFR][1000 genomes]
rs2914771	0.82[AFR][1000 genomes]
rs2914774	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2914777	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2914779	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2967232	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2967233	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967234	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2967240	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35005335	0.83[EUR][1000 genomes]
rs4788473	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788646	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55766519	0.87[EUR][1000 genomes]
rs55808336	0.87[EUR][1000 genomes]
rs56152199	0.84[AFR][1000 genomes]
rs56323671	0.91[EUR][1000 genomes]
rs56347149	0.89[EUR][1000 genomes]
rs56348767	0.89[EUR][1000 genomes]
rs56389222	0.86[EUR][1000 genomes]
rs56404261	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57220817	0.87[EUR][1000 genomes]
rs58549165	0.87[EUR][1000 genomes]
rs58745414	0.87[EUR][1000 genomes]
rs58770834	0.89[EUR][1000 genomes]
rs58860566	0.85[EUR][1000 genomes]
rs60502114	0.85[EUR][1000 genomes]
rs61475520	0.85[EUR][1000 genomes]
rs62051139	0.83[AFR][1000 genomes]
rs62051486	0.92[EUR][1000 genomes]
rs62051488	0.92[EUR][1000 genomes]
rs62051497	0.84[EUR][1000 genomes]
rs62052877	0.85[EUR][1000 genomes]
rs62052878	0.84[EUR][1000 genomes]
rs62052879	0.85[EUR][1000 genomes]
rs62052880	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62052881	0.85[EUR][1000 genomes]
rs62052888	0.85[EUR][1000 genomes]
rs62052890	0.87[EUR][1000 genomes]
rs62052891	0.87[EUR][1000 genomes]
rs62052895	0.87[EUR][1000 genomes]
rs62052909	0.87[EUR][1000 genomes]
rs62052911	0.87[EUR][1000 genomes]
rs62052915	0.85[EUR][1000 genomes]
rs62052920	0.90[EUR][1000 genomes]
rs62052921	0.90[EUR][1000 genomes]
rs62052923	0.82[EUR][1000 genomes]
rs62052927	0.89[EUR][1000 genomes]
rs62052954	0.86[EUR][1000 genomes]
rs62054469	0.92[EUR][1000 genomes]
rs62054470	0.92[EUR][1000 genomes]
rs6499577	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7188640	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7192221	0.89[EUR][1000 genomes]
rs7193177	0.87[EUR][1000 genomes]
rs7194470	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7194533	0.84[AFR][1000 genomes]
rs7198233	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7198431	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7198788	0.89[EUR][1000 genomes]
rs7199970	0.89[EUR][1000 genomes]
rs7205109	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72793252	0.85[EUR][1000 genomes]
rs72793263	0.89[EUR][1000 genomes]
rs72793266	0.90[EUR][1000 genomes]
rs72793271	0.87[EUR][1000 genomes]
rs8044665	0.82[EUR][1000 genomes]
rs8046070	0.84[AFR][1000 genomes]
rs8046749	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8048181	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8048832	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8049577	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8050815	0.91[EUR][1000 genomes]
rs8057278	0.81[AFR][1000 genomes]
rs8059626	0.85[EUR][1000 genomes]
rs8064129	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs877641	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9302637	0.84[AFR][1000 genomes]
rs9922217	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9924296	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9925470	0.87[EUR][1000 genomes]
rs999697	0.89[EUR][1000 genomes]
rs999698	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1064027	chr16:72559417-72656702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056987	chr16:72620573-72658730	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1064112	chr16:72620573-72671503	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1066815	chr16:72627782-72658730	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1055808	chr16:72627782-72667298	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2751612	chr16:72633299-72651914	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv431515	chr16:72633299-72654499	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7189331	DHODH	cis	cerebellum	SCAN
rs7189331	PRMT7	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72638400-72643600	Weak transcription	GM12878-XiMat	blood
2	chr16:72639000-72643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:72639000-72643400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr16:72639200-72643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:72639400-72643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:72643000-72643200	Enhancers	NHDF-Ad	bronchial
7	chr16:72643000-72644400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:72643000-72644800	Weak transcription	Fetal Muscle Leg	muscle

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