Variant report

Variant	rs863351
Chromosome Location	chr1:158538663-158538664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158532774..158535778-chr1:158538255..158542320,4	K562	blood:

Variant related genes	Relation type
ENSG00000186440	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1002599	0.85[CHB][hapmap]
rs1032352	0.86[ASN][1000 genomes]
rs10489833	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap]
rs10489834	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs10489835	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs10797010	0.84[ASN][1000 genomes]
rs10797011	0.84[ASN][1000 genomes]
rs10797012	0.84[ASN][1000 genomes]
rs10797013	0.84[ASN][1000 genomes]
rs10797017	1.00[CEU][hapmap]
rs10797020	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap]
rs10797022	0.86[ASN][1000 genomes]
rs10797023	0.86[ASN][1000 genomes]
rs10797024	0.86[ASN][1000 genomes]
rs10908651	0.84[ASN][1000 genomes]
rs10908652	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10908653	0.84[ASN][1000 genomes]
rs10908654	0.83[ASN][1000 genomes]
rs10908655	0.86[ASN][1000 genomes]
rs10908656	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10908657	0.84[ASN][1000 genomes]
rs10908658	0.84[ASN][1000 genomes]
rs10908659	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10908660	0.84[ASN][1000 genomes]
rs10908661	0.84[ASN][1000 genomes]
rs10908663	0.86[ASN][1000 genomes]
rs10908664	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10908680	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1112915	0.84[ASN][1000 genomes]
rs11264976	0.82[ASN][1000 genomes]
rs11264977	0.84[ASN][1000 genomes]
rs11264978	0.84[ASN][1000 genomes]
rs11264981	0.84[ASN][1000 genomes]
rs11264983	0.86[ASN][1000 genomes]
rs11264984	0.84[ASN][1000 genomes]
rs11264985	0.84[ASN][1000 genomes]
rs11264987	0.84[ASN][1000 genomes]
rs11264988	0.84[ASN][1000 genomes]
rs11264989	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs11264994	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11264997	0.85[ASN][1000 genomes]
rs11264998	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap]
rs11265002	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap]
rs11265003	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1157523	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1157525	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12034004	0.84[ASN][1000 genomes]
rs12041218	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12044283	0.84[ASN][1000 genomes]
rs12044288	0.84[ASN][1000 genomes]
rs12075903	0.86[ASN][1000 genomes]
rs12078065	0.84[ASN][1000 genomes]
rs12080815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12081915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118446	0.86[ASN][1000 genomes]
rs12122663	0.88[ASN][1000 genomes]
rs12133791	0.88[ASN][1000 genomes]
rs12133794	0.88[ASN][1000 genomes]
rs12145401	0.86[ASN][1000 genomes]
rs12403685	0.84[ASN][1000 genomes]
rs1342946	0.84[ASN][1000 genomes]
rs1342947	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1342950	0.84[ASN][1000 genomes]
rs1342952	0.84[ASN][1000 genomes]
rs1342953	0.84[ASN][1000 genomes]
rs1342954	0.84[ASN][1000 genomes]
rs1342958	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap]
rs1418843	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1418844	0.83[ASN][1000 genomes]
rs1418845	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1418846	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1418847	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1491196	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1573519	0.86[CHB][hapmap]
rs1578761	0.86[ASN][1000 genomes]
rs1578762	0.86[ASN][1000 genomes]
rs1578763	0.86[ASN][1000 genomes]
rs17630699	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1873509	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1873510	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1873511	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1894038	0.84[ASN][1000 genomes]
rs1894040	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2023632	0.86[ASN][1000 genomes]
rs2051450	0.83[ASN][1000 genomes]
rs2051451	0.84[ASN][1000 genomes]
rs2157687	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2157689	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2213947	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2220633	0.84[ASN][1000 genomes]
rs2317969	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2317970	0.88[ASN][1000 genomes]
rs2873593	0.88[ASN][1000 genomes]
rs2873594	0.88[ASN][1000 genomes]
rs2873595	0.88[ASN][1000 genomes]
rs4276920	0.88[ASN][1000 genomes]
rs4373761	0.84[ASN][1000 genomes]
rs4575081	0.88[ASN][1000 genomes]
rs4609418	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4614256	0.84[ASN][1000 genomes]
rs4657080	0.86[CHB][hapmap]
rs57366633	0.84[ASN][1000 genomes]
rs6427438	0.84[ASN][1000 genomes]
rs6427439	0.86[ASN][1000 genomes]
rs6657638	0.86[ASN][1000 genomes]
rs6663277	0.86[ASN][1000 genomes]
rs6664542	0.86[ASN][1000 genomes]
rs6666609	0.86[ASN][1000 genomes]
rs6670343	0.86[ASN][1000 genomes]
rs6672789	0.86[ASN][1000 genomes]
rs6674656	0.86[ASN][1000 genomes]
rs6679056	0.84[ASN][1000 genomes]
rs6689657	0.86[ASN][1000 genomes]
rs6697656	0.95[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs6699473	0.86[ASN][1000 genomes]
rs7512592	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap]
rs7514555	0.84[ASN][1000 genomes]
rs7514968	0.86[ASN][1000 genomes]
rs7515245	0.86[ASN][1000 genomes]
rs7518708	0.88[ASN][1000 genomes]
rs7518808	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7525362	0.86[ASN][1000 genomes]
rs7526514	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533071	0.88[ASN][1000 genomes]
rs7540999	0.88[ASN][1000 genomes]
rs7548349	0.86[ASN][1000 genomes]
rs7549123	0.84[ASN][1000 genomes]
rs7549581	0.94[CHB][hapmap];0.91[JPT][hapmap]
rs7551497	0.84[ASN][1000 genomes]
rs7555174	0.85[ASN][1000 genomes]
rs863345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863346	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863353	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863356	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863365	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs879635	0.86[ASN][1000 genomes]
rs879637	0.86[ASN][1000 genomes]
rs923663	0.88[ASN][1000 genomes]
rs923664	0.88[ASN][1000 genomes]
rs949397	0.86[ASN][1000 genomes]
rs949398	0.86[ASN][1000 genomes]
rs950260	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs950487	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs9651046	0.86[CHB][hapmap]
rs9804005	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013656	chr1:158516984-158542929	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1015106	chr1:158516984-158545423	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv547986	chr1:158520205-158556839	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs863351	IGSF8	cis	cerebellum	SCAN
rs863351	FCRL2	cis	parietal	SCAN
rs863351	DCST2	cis	cerebellum	SCAN
rs863351	CD5L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158535000-158539200	Weak transcription	Primary B cells from cord blood	blood

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