Variant report

Variant	rs619491
Chromosome Location	chr5:40885080-40885081
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	chr5:40839617..40842545-chr5:40884343..40886931,2	K562	blood:

Variant related genes	Relation type
ENSG00000132357	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10035225	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10035592	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10035621	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041257	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041319	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10046046	0.84[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs10051758	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10051888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10054615	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10054948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10056047	0.87[EUR][1000 genomes]
rs10056708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10058274	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10059679	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060965	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10063892	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10066847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10072099	0.87[ASN][1000 genomes]
rs10072128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073246	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10076486	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10076663	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10077786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10078706	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10079875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10080165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10472340	0.87[ASN][1000 genomes]
rs10472342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10472344	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10473219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10473221	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473227	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10473228	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10512750	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10941526	1.00[CEU][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10941527	0.89[EUR][1000 genomes]
rs1120308	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11739731	0.89[EUR][1000 genomes]
rs11741315	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11746650	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11748194	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12109051	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12652909	0.87[ASN][1000 genomes]
rs12657195	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12658133	0.94[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs12659571	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13353861	0.95[EUR][1000 genomes]
rs13353865	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13354561	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13360188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1393155	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1393156	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1615402	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1645519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16870407	0.84[CHD][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap]
rs16870425	1.00[CEU][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16870434	0.97[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap]
rs16870491	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1697939	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1697940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1697941	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1697942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1827363	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1827366	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1827367	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs188932	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2081153	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs225749	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2329430	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2432155	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2455303	0.87[EUR][1000 genomes]
rs2455307	0.81[ASW][hapmap];0.95[CEU][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2455308	0.82[ASW][hapmap];0.95[CEU][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2876848	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28770573	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28831497	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28834109	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28860325	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28870511	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs323555	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs323557	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs323558	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs323559	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs323563	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs323564	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs323566	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34888872	0.89[EUR][1000 genomes]
rs369331	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs373411	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792640	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3792641	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3792642	0.84[CEU][hapmap]
rs4277953	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4277954	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs439322	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4461680	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs446920	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4559041	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs567165	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62357063	0.87[EUR][1000 genomes]
rs62357601	0.96[EUR][1000 genomes]
rs62357603	0.92[EUR][1000 genomes]
rs62357605	0.92[EUR][1000 genomes]
rs62357612	0.96[EUR][1000 genomes]
rs62357636	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62357641	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62358575	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62358580	0.87[EUR][1000 genomes]
rs72749508	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72749510	0.87[ASN][1000 genomes]
rs72749514	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72749521	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7445411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7701643	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7701662	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7701871	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7704691	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7706776	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7711745	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7716062	0.87[EUR][1000 genomes]
rs7717388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7717391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7717457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7717794	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7721703	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7724262	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7731772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7731944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7732976	0.89[AMR][1000 genomes]
rs7733440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs837387	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9292788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9292790	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9292793	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9292795	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9292798	0.87[EUR][1000 genomes]
rs972007	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs972008	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9885543	0.93[AMR][1000 genomes];0.89[EUR][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	esv3444044	chr5:40860244-40888483	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs619491	DAB2	cis	cerebellum	SCAN
rs619491	GDNF	cis	cerebellum	SCAN
rs619491	OXCT1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40883600-40885200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40885000-40885200	Enhancers	Fetal Brain Male	brain

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