Variant report

Variant	rs1430593
Chromosome Location	chr7:84490358-84490359
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	chr7:84488567..84491272-chr7:84499868..84501444,2	K562	blood:
2	chr7:84480748..84484086-chr7:84489031..84492555,3	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10085515	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10224730	0.85[EUR][1000 genomes]
rs10225306	0.85[EUR][1000 genomes]
rs10226150	0.93[EUR][1000 genomes]
rs10227116	0.85[EUR][1000 genomes]
rs10229754	0.85[EUR][1000 genomes]
rs10239803	0.89[EUR][1000 genomes]
rs10240021	0.84[EUR][1000 genomes]
rs10246917	0.89[EUR][1000 genomes]
rs10249026	0.89[EUR][1000 genomes]
rs10260931	0.89[EUR][1000 genomes]
rs10272662	0.86[EUR][1000 genomes]
rs10274330	0.88[EUR][1000 genomes]
rs1030539	0.88[EUR][1000 genomes]
rs1030540	0.85[EUR][1000 genomes]
rs1030541	0.88[EUR][1000 genomes]
rs10954760	0.95[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10954761	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1118915	0.89[EUR][1000 genomes]
rs11761247	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs11764839	0.86[EUR][1000 genomes]
rs11765826	0.89[EUR][1000 genomes]
rs11980701	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983702	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12154861	0.89[EUR][1000 genomes]
rs12155118	0.89[EUR][1000 genomes]
rs12155210	0.88[EUR][1000 genomes]
rs12672643	0.95[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs12707677	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12707678	0.80[EUR][1000 genomes]
rs12707680	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12707681	0.85[EUR][1000 genomes]
rs12707682	0.85[EUR][1000 genomes]
rs12707683	0.85[EUR][1000 genomes]
rs12707684	0.87[EUR][1000 genomes]
rs12707690	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13221551	0.89[EUR][1000 genomes]
rs13225076	0.89[EUR][1000 genomes]
rs13226061	0.86[EUR][1000 genomes]
rs13227976	0.81[EUR][1000 genomes]
rs13227983	0.85[EUR][1000 genomes]
rs13235916	0.89[EUR][1000 genomes]
rs13239654	0.89[EUR][1000 genomes]
rs13240109	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243442	0.89[EUR][1000 genomes]
rs13243701	0.86[EUR][1000 genomes]
rs13244454	0.83[EUR][1000 genomes]
rs13340534	0.81[EUR][1000 genomes]
rs1579511	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1583135	0.87[EUR][1000 genomes]
rs1583136	0.85[EUR][1000 genomes]
rs1583137	0.86[EUR][1000 genomes]
rs1583138	0.84[EUR][1000 genomes]
rs1583142	0.89[EUR][1000 genomes]
rs1583143	0.85[EUR][1000 genomes]
rs1583144	0.89[EUR][1000 genomes]
rs1583145	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1583147	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594379	0.81[EUR][1000 genomes]
rs1594388	0.89[EUR][1000 genomes]
rs1594390	0.89[EUR][1000 genomes]
rs1594392	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594393	0.89[EUR][1000 genomes]
rs1599876	0.89[EUR][1000 genomes]
rs1599877	0.89[EUR][1000 genomes]
rs1599878	0.89[EUR][1000 genomes]
rs1609872	0.88[EUR][1000 genomes]
rs1609875	0.88[EUR][1000 genomes]
rs1609876	0.85[EUR][1000 genomes]
rs1609877	0.89[EUR][1000 genomes]
rs1813781	0.94[EUR][1000 genomes]
rs1819081	0.95[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs1820960	0.89[EUR][1000 genomes]
rs1820961	0.88[EUR][1000 genomes]
rs1820962	0.89[EUR][1000 genomes]
rs1835403	0.93[EUR][1000 genomes]
rs1897150	0.81[EUR][1000 genomes]
rs1897151	0.88[EUR][1000 genomes]
rs1897155	0.89[EUR][1000 genomes]
rs1897158	0.88[EUR][1000 genomes]
rs1919284	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1919285	0.93[EUR][1000 genomes]
rs1919287	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1961063	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1963873	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1965737	0.81[EUR][1000 genomes]
rs1982016	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1982019	0.86[EUR][1000 genomes]
rs1982020	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1988767	0.89[EUR][1000 genomes]
rs1997303	0.89[EUR][1000 genomes]
rs2099203	0.93[EUR][1000 genomes]
rs2141416	0.93[EUR][1000 genomes]
rs2195647	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2195648	0.92[EUR][1000 genomes]
rs2217453	0.94[EUR][1000 genomes]
rs28613865	0.88[EUR][1000 genomes]
rs28671173	0.89[EUR][1000 genomes]
rs34085748	0.81[EUR][1000 genomes]
rs34701264	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34829637	0.81[EUR][1000 genomes]
rs34905624	0.93[EUR][1000 genomes]
rs35037906	0.95[EUR][1000 genomes]
rs35169726	0.93[EUR][1000 genomes]
rs35433276	0.85[EUR][1000 genomes]
rs35508218	0.86[EUR][1000 genomes]
rs35992683	0.86[EUR][1000 genomes]
rs3886737	0.92[EUR][1000 genomes]
rs4301393	0.90[EUR][1000 genomes]
rs4395839	0.95[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs4401790	0.82[EUR][1000 genomes]
rs4481537	0.94[EUR][1000 genomes]
rs4518607	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs4534087	0.95[EUR][1000 genomes]
rs4563833	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs58730623	0.89[EUR][1000 genomes]
rs62474471	0.85[EUR][1000 genomes]
rs62474473	0.89[EUR][1000 genomes]
rs62474474	0.89[EUR][1000 genomes]
rs62474475	0.89[EUR][1000 genomes]
rs62474492	0.89[EUR][1000 genomes]
rs6468002	0.89[EUR][1000 genomes]
rs6468003	0.89[EUR][1000 genomes]
rs6468004	0.89[EUR][1000 genomes]
rs6946368	0.87[EUR][1000 genomes]
rs71560704	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732793	0.84[EUR][1000 genomes]
rs732794	0.85[EUR][1000 genomes]
rs732795	0.85[EUR][1000 genomes]
rs733513	0.83[EUR][1000 genomes]
rs752660	0.85[EUR][1000 genomes]
rs752664	0.84[EUR][1000 genomes]
rs7777318	0.93[EUR][1000 genomes]
rs7782136	0.89[EUR][1000 genomes]
rs7782980	0.89[EUR][1000 genomes]
rs7787947	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7799648	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801827	0.89[EUR][1000 genomes]
rs7803475	0.85[EUR][1000 genomes]
rs7805691	0.89[EUR][1000 genomes]
rs7805723	0.86[EUR][1000 genomes]
rs782895	0.97[ASN][1000 genomes]
rs782902	0.90[EUR][1000 genomes]
rs810667	0.97[ASN][1000 genomes]
rs919529	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9642192	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9649677	0.89[EUR][1000 genomes]
rs9649678	1.00[ASN][1000 genomes]
rs993219	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831050	chr7:84355996-84527261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1430593	RUNDC3B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84487800-84490400	Weak transcription	K562	blood

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